• Mutations in HMG-CoA lyase cause HMG-CoA lyase deficiency (HMGCLD), which is an autosomal recessive congenital disorder of metabolism. (academicjournals.org)
  • This study was designed to detect mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase ( HMGCL ) gene in a Saudi family segregating HMG-CoA lyase deficiency (HMGCLD). (academicjournals.org)
  • HMGCL gene, 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMG-CoA lyase) deficiency, homozygous mutation, protein stability. (academicjournals.org)
  • Dozens of mutations in the CYP17A1 gene have been found to cause 17α-hydroxylase/17,20-lyase deficiency. (medlineplus.gov)
  • Reduction of these activities leads to partial 17α-hydroxylase/17,20-lyase deficiency, while total loss of these activities leads to the more severe form of the disorder known as complete 17α-hydroxylase/17,20-lyase deficiency. (medlineplus.gov)
  • A small number of CYP17A1 gene mutations have been found to cause isolated 17,20-lyase deficiency, which is characterized by abnormal sexual development without hypertension or hypokalemia. (medlineplus.gov)
  • As in 17α-hydroxylase/17,20-lyase deficiency (described above), impairment of 17,20-lyase activity disrupts sex hormone production, leading to abnormal development of internal or external reproductive organs and delayed or absent puberty in affected individuals. (medlineplus.gov)
  • The genetic and functional basis of isolated 17,20-lyase deficiency. (medlineplus.gov)
  • P450c17 is the product of the cytochrome P45017 alpha gene (CYP17A1), and specific mutations of this gene cause varying degrees of partial-to-severe isolated 17-hydroxylase deficiency, isolated 17,20 lyase deficiency, or combined deficiencies. (medscape.com)
  • Moreover, to determine the protein stability upon change in amino acid various tools including SDM, I-Mutant, mCSM and DUET were used and found that the mutation, identified in this family, is protein destabilizing. (academicjournals.org)
  • however, whether this protein is a lyase has yet to be determined. (cazypedia.org)
  • Members of this family are the PhnL protein of C-P lyase systems for utilization of phosphonates. (nih.gov)
  • This protein (PhnL) and the adjacent-encoded PhnK (TIGR02323) resemble transporter ATP-binding proteins but are suggested, based on mutatgenesis studies, to be part of this C-P lyase complex rather than part of a transporter per se. (nih.gov)
  • These mutations alter a region of the CYP17A1 protein that plays a role in the enzyme's 17,20-lyase function but not its 17α-hydroxylase function. (medlineplus.gov)
  • 1251 orc1%2Fcdc6 family replication initiation protein CP001857 CDS Arcpr_0002 1251. (go.jp)
  • 9195) PhoH family protein CP001857 CDS Arcpr_0008 9278. (go.jp)
  • 41666) ExsB family protein CP001857 CDS Arcpr_0048 41748. (go.jp)
  • 45756) PEBP family protein CP001857 CDS Arcpr_0056 45795. (go.jp)
  • 47904) TATA-box binding family protein CP001857 CDS Arcpr_0059 47991. (go.jp)
  • PCC 6803 slr 1649-encoded protein also acts as a bilin lyase, and additionally contributes to linker attachment and/or stability of phycobilisomes. (biomedcentral.com)
  • PCC 6803 and indicate that after separating from a common ancestor protein, the phycoerythrin lyase from Guillardia theta has retained its capacity to couple a bilin group to other phycobiliproteins. (biomedcentral.com)
  • Recently Zhao and co-workers discovered that a CpeS-like protein functions as a phycocyanobilin-cysteine-beta84 lyase in Anabaena sp. (biomedcentral.com)
  • Family 22 Polysaccharide Lyases (PL22s) contain two subfamilies and several outlier sequences [ 1 ]. (cazypedia.org)
  • Exploring molecular determinants of polysaccharide lyase family 6-1 enzyme activity. (ox.ac.uk)
  • The polysaccharide lyase family 6 (PL6) represents one of the 41 polysaccharide lyase families classified in the CAZy database with the vast majority of its members being alginate lyases grouped into three subfamilies, PL6_1-3. (ox.ac.uk)
  • NMR and UV spectroscopic assays revealed that it encodes a novel polysaccharide lyase (PL), hereafter referred to as BtCDH, reflecting its source (B. thetaiotaomicron (Bt)) and its ability to degrade the GAGs CS, dermatan sulfate (DS), and hyaluronic acid (HA). (hal.science)
  • BtCDH homologs were also detected in several other HGM species, and we therefore propose that it represents the founding member of a new polysaccharide lyase family (PL29). (hal.science)
  • Plant cell wall degrading enzyme modules including glycoside hydrolases, carbohydrate esterases and polysaccharide lyases were identified from over 2500 contigs. (concordia.ca)
  • displays the lowest reported pH optimum for a pectate lyase (7.3 - 7.7) [ 3 ], which is substantially lower than other families that deploy catalytic arginines or lysines in the β-elimination of pectate. (cazypedia.org)
  • Find N-Acetylneuraminate Pyruvate Lyase (Dihydrodipicolinate Synthase) Proteins with a specific Grade. (antibodies-online.com)
  • Find N-Acetylneuraminate Pyruvate Lyase (Dihydrodipicolinate Synthase) Proteins for a variety of species such as anti-Human N-Acetylneuraminate Pyruvate Lyase (Dihydrodipicolinate Synthase), anti-Xenopus laevis N-Acetylneuraminate Pyruvate Lyase (Dihydrodipicolinate Synthase), anti-Cow N-Acetylneuraminate Pyruvate Lyase (Dihydrodipicolinate Synthase). (antibodies-online.com)
  • Find N-Acetylneuraminate Pyruvate Lyase (Dihydrodipicolinate Synthase) Proteins validated for a specific application such as ELISA, WB, SDS, AP. (antibodies-online.com)
  • Isocitrate lyase family is a family of evolutionarily related proteins. (wikipedia.org)
  • Other enzymes also belong to this family including carboxyvinyl-carboxyphosphonate phosphorylmutase (EC 2.7.8.23) which catalyses the conversion of 1-carboxyvinyl carboxyphosphonate to 3-(hydrohydroxyphosphoryl) pyruvate carbon dioxide, and phosphoenolpyruvate mutase (EC 5.4.2.9), which is involved in the biosynthesis of phosphinothricin tripeptide antibiotics. (wikipedia.org)
  • From comparative studies with existing structures of PL6_1 alginate lyases, we observe that in the right-handed parallel β-helix fold shared by all these enzymes, the substrate-binding site harbors the same overall conserved structures and organization. (ox.ac.uk)
  • This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. (antibodies-online.com)
  • Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders of adrenal steroid biosynthesis in which one of the enzymes necessary for cortisol production has deficient activity. (medscape.com)
  • N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. (antibodies-online.com)
  • sialic acid lyase-O00B-Wuxi Biortus Biosciences Co. Ltd. (wuxibiortus.com)
  • Isocitrate lyase (EC 4.1.3.1) is an enzyme that catalyzes the conversion of isocitrate to succinate and glyoxylate. (wikipedia.org)
  • The enzyme 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase catalyzes the terminal steps in ketone body generation and leucine degradation. (rcsb.org)
  • Cytochrome P450c17, an enzyme complex present in Leydig cells, ovarian follicles, and the adrenal zonae fasciculata and reticularis, catalyzes both 17-hydroxylase and 17,20 lyase activity. (medscape.com)
  • The gene HMGCL encodes 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase. (academicjournals.org)
  • The CYP17A1 gene provides instructions for making a member of the cytochrome P450 enzyme family. (medlineplus.gov)
  • Expression Profile of the Serine Acetyltransferase (SERAT) and O-Acetylserine (thiol)lyase (OASTL) Gene Families in Arabidopsis. (mpg.de)
  • This enzyme family is found primarily in phytopathogenic or intestinal bacteria where it plays a role in the metabolism of pectin. (cazypedia.org)
  • We propose the name "DRE-TIM metallolyases" for this newly identified enzyme family likely to employ a common catalytic reaction mechanism involving an invariant Asp-Arg-Glu (DRE) triplet. (rcsb.org)
  • Clinical and molecular genetic analysis of a Saudi family with five individuals affected with HMGCLD was performed by GC-MS, tandem MS and sequencing. (academicjournals.org)
  • Cysteine peptidases with an intein-like fold are included in clan PD, which also includes asparagine lyases. (embl.de)
  • Four clans of cysteine peptidases share structural similarities with serine and threonine peptidases and asparagine lyases. (embl.de)
  • Encodes a member of the histidine kinase family. (or.jp)
  • These included a number of glycoside hydrolase family 6 (GH6), GH48 and swollenin modules, which have rarely been described in previous gut metagenomic studies. (concordia.ca)
  • We propose a detailed model for the catalytic reaction mechanism of HMG-CoA lyase based on the examination of previously reported product complexes of other DRE-TIM metallolyases and induced fit substrate docking studies conducted using the crystal structure of human HMG-CoA lyase (reported in the accompanying paper by Fu, et al. (rcsb.org)
  • Annotation: the most common InterPro annotation(s) of the Arabidopsis members in the family. (cornell.edu)
  • At high i value, genes tend to be separated into different families. (cornell.edu)
  • CYP17A1 also has 17,20-lyase activity, which converts 17-hydroxypregnenolone to dehydroepiandrosterone (DHEA). (medlineplus.gov)
  • Mutations associated with this condition reduce or eliminate both 17α-hydroxylase and 17,20-lyase activity. (medlineplus.gov)
  • A loss of 17,20-lyase activity impairs sex hormone production. (medlineplus.gov)
  • As a result, 17,20-lyase activity is severely reduced but 17α-hydroxylase activity is normal. (medlineplus.gov)
  • Del C. Ríos de Molina, M. Erythrocyte porphyrinogen carboxy-lyase activity in porphyria cutanea tarda and certain other human porphyrias. (uba.ar)
  • de Viale, L.C.S.M. 'Erythrocyte porphyrinogen carboxy-lyase activity in porphyria cutanea tarda and certain other human porphyrias' (1980) Clinica Chimica Acta. (uba.ar)
  • The 'stabilizing arginine' [ 3 ] (YE1876: R217) is completely conserved across the PL22 family. (cazypedia.org)
  • In only one family of cysteine peptidases, is the role of the general base assigned to a residue other than a histidine: in peptidases from family C89 (acid ceramidase) an arginine is the general base. (embl.de)
  • Compound 5 is fumaric acid generated in the reaction that converts ASA to arginine (6), which is mediated by ASA lyase. (medscape.com)
  • Fucan represents a family of water soluble, SP rich in sulfated l -fucose, extracted from extracellular matrix of these weeds (Li et al. (springer.com)
  • Isocitrate lyase InterPro: IPR006254 Methylisocitrate lyase InterPro: IPR012695 Carboxyvinyl-carboxyphosphonate phosphorylmutase InterPro: IPR012697 Beeching JR (1989). (wikipedia.org)
  • There are over thirty families in the clan, and tertiary structures have been solved for members of most of these. (embl.de)
  • 5) Child mortality in the family from diseases with similar symptoms. (who.int)
  • L-serine ammonia-lyase (EC:4.3.1.17), so that the overall reaction is C(-OH)-CH(-NH2) = CH2-CO- + NH3, i.e. an elimination with rearrangement. (ntu.edu.sg)
  • Here we present crystal structures of the HMG-CoA lyases from Bacillus subtilis and Brucella melitensis at 2.7 and 2.3 A resolution, respectively. (rcsb.org)
  • 14733) putative transcriptional regulator%2C AsnC family CP001857 CDS Arcpr_0015 complement(14711. (go.jp)
  • Prominent among these is the RRNPP (Rap, Rgg, NprR, PlcR, PrgX) family of transcriptional regulators, which are characterized at the structural level by the presence of tetratricopeptide repeats that mediate regulator-peptide interactions ( Cook and Federle, 2014 ). (frontiersin.org)
  • Our data show that the loss of phycocyanin-lyase function causes pleiotropic effects in Synechocystis sp. (biomedcentral.com)
  • 1YDN: Crystal Structure of the HMG-CoA Lyase from Brucella melitensis, Northeast Structural Genomics Target LR35. (rcsb.org)