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*  Pathology Flashcards by John DeWaard | Brainscape
Gene products present in primary cilia, basal bodies attached to these cilia, or the centrosome organelles form which the basal ... Affected children may have hypertension in upper body and hypotension in lower body ... Mutations in genes which code for important structural components of basement mebranes of kidney, inner ear, and eye ... Enlargement of body organs, hemihypertrophy, renal medually cysts, and abnormal large cells in adrenal cortex (cytomegaly) ...
  https://www.brainscape.com/flashcards/pathology-6828613/packs/10860859
*  Knockdown of the Zebrafish Ortholog of the Retinitis Pigmentosa 2 (RP2) Gene Results in Retinal Degeneration | IOVS | ARVO...
Many ciliopathy-associated genes encode functional or structural components of primary cilia or basal bodies. Patients carrying ... RP2 is also a component of the basal bodies and binds the N-ethylmaleimide-sensitive factor, which supports a role in vesicular ... It showed there is one copy of this gene on chromosome 6. The genomic sequence around the putative zebrafish RP2 gene was used ... 12 Recent work has demonstrated that RP2 also localizes to the basal body, the Golgi complex, and the periciliary ridge of ...
  http://iovs.arvojournals.org/article.aspx?articleid=2165509
*  CFAP410 cilia and flagella associated protein 410 [Homo sapiens (human)] - Gene - NCBI
ciliary basal body IDA Inferred from Direct Assay. more info. PubMed cilium IBA Inferred from Biological aspect of Ancestor. ... Gene neighbors Overlapping genes and two nearest non-overlapping genes on either side ... CFAP410 cilia and flagella associated protein 410 [ Homo sapiens (human) ] Gene ID: 755, updated on 7-Oct-2018 ... CFAP410 cilia and flagella associated protein 410 [Homo sapiens]. Gene ID:755 ...
  https://www.ncbi.nlm.nih.gov/gene/755
*  KIAA0586 is mutated in Joubert syndrome - Zurich Open Repository and Archive
Biallelic mutations in one of 28 genes, all encoding proteins localizing to the primary cilium or basal body, can cause JS. ... Biallelic mutations in one of 28 genes, all encoding proteins localizing to the primary cilium or basal body, can cause JS. ... Despite this large number of genes, the genetic cause can currently be determined in about 62% of individuals with JS. To ... Despite this large number of genes, the genetic cause can currently be determined in about 62% of individuals with JS. To ...
  http://www.zora.uzh.ch/id/eprint/116191/
*  TTLL6 Gene - GeneCards | TTLL6 Protein | TTLL6 Antibody
Complete information for TTLL6 gene (Protein Coding), Tubulin Tyrosine Ligase Like 6, including: function, proteins, disorders ... Cytoplasm, cytoskeleton, cilium basal body. Note=CEP41 is required for its transport between the basal body and the cilium. { ... No data available for DME Specific Peptides for TTLL6 Gene Domains & Families for TTLL6 Gene Gene Families for TTLL6 Gene. HGNC ... Evolution for TTLL6 Gene. ENSEMBL:. Gene Tree for TTLL6 (if available). TreeFam:. Gene Tree for TTLL6 (if available). ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL6
*  LCA5 Gene - GeneCards | LCA5 Protein | LCA5 Antibody
Complete information for LCA5 gene (Protein Coding), LCA5, Lebercilin, including: function, proteins, disorders, pathways, ... Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule ... No data available for DME Specific Peptides for LCA5 Gene Domains & Families for LCA5 Gene Gene Families for LCA5 Gene. Human ... Summaries for LCA5 Gene Entrez Gene Summary for LCA5 Gene. * This gene encodes a protein that is thought to be involved in ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCA5
*  BBS10 Gene - GeneCards | BBS10 Protein | BBS10 Antibody
Complete information for BBS10 gene (Protein Coding), Bardet-Biedl Syndrome 10, including: function, proteins, disorders, ... Subcellular locations from UniProtKB/Swiss-Prot for BBS10 Gene. Cell projection, cilium. Note=Located within the basal body of ... Summaries for BBS10 Gene Entrez Gene Summary for BBS10 Gene. * This gene is a member of the Bardet-Biedl syndrome (BBS) gene ... No data available for DME Specific Peptides for BBS10 Gene Domains & Families for BBS10 Gene Gene Families for BBS10 Gene. HGNC ...
  https://www.genecards.org/cgi-bin/carddisp.pl?gene=BBS10
*  CCDC88A Gene - GeneCards | GRDN Protein | GRDN Antibody
Complete information for CCDC88A gene (Protein Coding), Coiled-Coil Domain Containing 88A, including: function, proteins, ... Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note ... Summaries for CCDC88A Gene Entrez Gene Summary for CCDC88A Gene. * This gene encodes a member of the Girdin family of coiled- ... No data available for DME Specific Peptides for CCDC88A Gene Domains & Families for CCDC88A Gene Gene Families for CCDC88A Gene ...
  https://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=55704
*  MKS1 Gene - GeneCards | MKS1 Protein | MKS1 Antibody
Complete information for MKS1 gene (Protein Coding), Meckel Syndrome, Type 1, including: function, proteins, disorders, ... The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated ... Subcellular locations from UniProtKB/Swiss-Prot for MKS1 Gene. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, ... No data available for DME Specific Peptides for MKS1 Gene Domains & Families for MKS1 Gene Gene Families for MKS1 Gene. HGNC:. ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKS1
*  IFT88 Gene - GeneCards | IFT88 Protein | IFT88 Antibody
Complete information for IFT88 gene (Protein Coding), Intraflagellar Transport 88, including: function, proteins, disorders, ... Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia. (PMID: 11251073) Taulman PD … ... No data available for DME Specific Peptides for IFT88 Gene Domains & Families for IFT88 Gene Gene Families for IFT88 Gene. HGNC ... Summaries for IFT88 Gene Entrez Gene Summary for IFT88 Gene. * This gene encodes a member of the tetratrico peptide repeat (TPR ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFT88
*  CC2D2A Gene - GeneCards | C2D2A Protein | C2D2A Antibody
Complete information for CC2D2A gene (Protein Coding), Coiled-Coil And C2 Domain Containing 2A, including: function, proteins, ... Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ... No data available for DME Specific Peptides for CC2D2A Gene Domains & Families for CC2D2A Gene Gene Families for CC2D2A Gene. ... Summaries for CC2D2A Gene Entrez Gene Summary for CC2D2A Gene. * This gene encodes a coiled-coil and calcium binding domain ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=CC2D2A
*  TMEM216 Gene - GeneCards | TM216 Protein | TM216 Antibody
Complete information for TMEM216 gene (Protein Coding), Transmembrane Protein 216, including: function, proteins, disorders, ... Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ... No data available for DME Specific Peptides for TMEM216 Gene Domains & Families for TMEM216 Gene Gene Families for TMEM216 Gene ... Evolution for TMEM216 Gene. ENSEMBL:. Gene Tree for TMEM216 (if available). TreeFam:. Gene Tree for TMEM216 (if available). ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM216
*  CEP131 Gene - GeneCards | CP131 Protein | CP131 Antibody
Complete information for CEP131 gene (Protein Coding), Centrosomal Protein 131, including: function, proteins, disorders, ... Cytoplasm, cytoskeleton, cilium basal body. Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Colocalized with ... No data available for DME Specific Peptides for CEP131 Gene Domains & Families for CEP131 Gene Gene Families for CEP131 Gene. ... Evolution for CEP131 Gene. ENSEMBL:. Gene Tree for CEP131 (if available). TreeFam:. Gene Tree for CEP131 (if available). ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP131
*  Hamdan Medical Journal
This gene encodes a centrosomal and basal body cilia protein that plays an important role in the early development of the brain ... Gene therapy is the use of genes to heal diseases at the genetic level. It involves insertion, correction or inactivation of ... A novel splice site deletion in the OFD1 gene is responsible for oral-facial-digital syndrome type 1 in an Emirati child. Salma ... Human gene therapy - the future of health care. Milad Soleimani, Maxime Merheb, Rachel Matar. January-March 2015, 8(1):101-110 ...
  http://www.hamdanjournal.org/showstats.asp?issn=2227-2437
*  Prickle3 - Prickle planar cell polarity protein 3 - Mus musculus (Mouse) - Prickle3 gene & protein
Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity). ... Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity).By ... WTIP is involved in the recruitment of PRICKLE3 to the basal body (By similarity).By similarity. ,p>Manually curated ... This polarity is controlled by Wnt proteins (By similarity). WTIP is involved in the recruitment of PRICKLE3 to the basal body ...
  http://www.uniprot.org/uniprot/Q80VL3
*  poc1a TaqMan SNP Genotyping Assays
They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. ... Entrez Gene IDs. Gene Symbols. Gene Name. Assay IDs. Entrez Gene IDs. Gene Symbols. RefSeq Accession numbers. GenBank mRNA ... RNAdb IDs and Gene Symbols. Supported Keywords:. Gene Symbol. RefSeq mRNA Accession. Entrez Gene ID. UniGene ID. Gene Alias. ... Entrez Gene ID: e.g. "6262. Gene Symbol: e.g. "JAK2". Gene Name: e.g. "Janus kinase 2". RefSeq Accession #: e.g. "NM_007294". ...
  https://www.thermofisher.com/order/genome-database/browse/genotyping/keyword/POC1A
*  Cby1 - Protein chibby homolog 1 - Rattus norvegicus (Rat) - Cby1 gene & protein
cilium basal body By similarity. Manual assertion inferred from sequence similarity toi ... Interacts with FAM92A; this interaction facilites targeting of FAM92A to cilium basal body.By similarity. Manual assertion ... ciliary basal body Source: GO_CentralInferred from biological aspect of ancestori*21873635 ... Gene expression databases. Bgee dataBase for Gene Expression Evolution. More...Bgeei. ENSRNOG00000013892 Expressed in 10 organ( ...
  https://www.uniprot.org/uniprot/Q8K4I6
*  Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity | Journal of Medical Genetics
... all of which encode proteins localising to the primary cilium or basal body.3 ,7 Primary cilia are microtubule-based organelles ... Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet ... Gene-specific mutation patterns provide insights into gene function. The observed gene-phenotype correlations, along with the ... Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome. Am J Hum Genet 2008;83:170-9. doi:10.1016/j. ...
  http://jmg.bmj.com/content/52/8/514
*  Bardet-Biedl syndrome - Wikipedia
The gene products encoded by these BBS genes, called BBS proteins, are located in the basal body and cilia of the cell. Using ... Being Cilia Accessible article at Howard Hughes Medical Institute on the importance and extensive use of cilia and basal bodies ... New finding reported in October 2007: "hitherto unrecognized, but essential, role for mammalian basal body proteins in the ... "Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome". Nature. 425 (6958): 628-33. doi:10.1038/ ...
  https://en.wikipedia.org/wiki/Bardet%E2%80%93Biedl_syndrome
*  SDCCAG8 Gene - GeneCards | SDCG8 Protein | SDCG8 Antibody
Complete information for SDCCAG8 gene (Protein Coding), Serologically Defined Colon Cancer Antigen 8, including: function, ... FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins ... No data available for DME Specific Peptides for SDCCAG8 Gene Domains & Families for SDCCAG8 Gene Gene Families for SDCCAG8 Gene ... Summaries for SDCCAG8 Gene Entrez Gene Summary for SDCCAG8 Gene. * This gene encodes a centrosome associated protein. This ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8
*  Cilia in vertebrate development and disease | Development
2004). Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 117 ... 2007). Ftm is a novel basal body protein of cilia involved in Shh signalling. Development 134, 2569-2577. ... Although evidence for the relationship between Wnt signaling and the basal body and cilium has been robust, two recent reports ... 2004). Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis. Cell 117, 527-539. ...
  http://dev.biologists.org/content/139/3/443?ijkey=b26c0dece44d1b6b546f8f9a917ab6b78127f0f1&keytype2=tf_ipsecsha
*  New Tetrahymena basal body protein components identify basal body domain structure | JCB
Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis. Cell. 117:527-539. ... with basal bodies) and cells depleted of γ-tubulin (without basal bodies) for 24 h. An enrichment of basal bodies in the γ- ... Each domain fulfills a role for basal bodies and their attached cilia. These poorly defined functions include basal body ... they migrate to the cell cortex to function as basal bodies for primary cilia formation. Like centrioles, basal bodies consist ...
  http://jcb.rupress.org/content/178/6/905
*  Generation of mice with functional inactivation of talpid3, a gene first identified in chicken | Development
2007). Ftm is a novel basal body protein of cilia involved in Shh signalling. Development 134, 2569-2577. ... A similar failure of centrosome positioning and/or docking is seen in cells lacking function in other genes encoding basal body ... the centrosome that will form the basal body of the cilium fails to dock with the apical cell membrane. ... Loss of cilia from cells of talpid3 CKO mouse limbs. (A,B) Wild-type mouse forelimb (A) and hind limb (B). Primary cilia ...
  http://dev.biologists.org/content/138/15/3261
*  The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence | JCB
... protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in ... The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body ... Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm. Kidney Int. ... Fibrocystin is the gene product of the human autosomal recessive polycystic kidney disease gene, PKHD1 (Onuchic et al., 2002; ...
  http://jcb.rupress.org/content/188/1/21?ijkey=f417692f1f90097cc6819bf09420853b79b85255&keytype2=tf_ipsecsha
*  Fibrocystin - Wikipedia
... protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in ... FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), ... Mutations of its encoding gene (chromosomal locus 6p12.2) can cause autosomal recessive polycystic kidney disease. Zhang M, Mai ...
  https://en.wikipedia.org/wiki/Fibrocystin