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  • locus
  • Expression quantitative trait locus (eQTL) analyses of the significantly associated SNPs were performed using data from the Multiple Tissue Human Expression Resource (MuTHER) Study. (nih.gov)
  • Despite being located on Spastic paraplegia 46, a locus on chromosome 9, that is known to cause an autosomal-recessive disease called hereditary spastic paraplegia (HSP), FAM166B was determined not to be the gene responsible for the disease due to its frequency in the population controls. (wikipedia.org)
  • Carcinoma
  • Loss of heterozygosity at chromosome 9p in ductal carcinoma in situ and invasive carcinoma of the breast. (openrepository.com)
  • Twenty-three cases of ductal carcinoma in situ (DCIS), ten of which had an associated invasive component, were studied for loss of heterozygosity (LOH) of microsatellite markers on chromosome 9p and the results compared with a panel of 20 invasive breast carcinomas. (openrepository.com)
  • homologues
  • C) Detection of the repeat expansion in the lymphoblastoid cell line from the affected proband of the GWENT#1 kindred (ND06769) by FISH using Alexa Fluor 488 - labeled oligonucleotide probe seen as a green fluorescence signal on one of the homologues of chromosome 9p (i) consistent with a repeat expansion size of more than 1.5kb. (nih.gov)
  • It is one of several human homologues of a gene that was originally discovered in the fruit fly Drosophila melanogaster. (wikipedia.org)
  • adult
  • Northern blot analysis revealed expression predominantly in adipose tissue as well as female-specific organs such as mammary gland, ovary, and uterus among 20 human adult tissues examined. (biomedsearch.com)
  • Cancer
  • Those hosted by the Sanger Institute include: COSMIC, a catalogue of somatic mutations in cancer DECIPHER, a database of chromosomal imbalance and phenotype in humans, using Ensembl resources Ensembl, a genome browser co-hosted by the European Bioinformatics Institute. (wikipedia.org)
  • A lung cancer study also showed that MGC50722 was expressed in CD4+ T-Cells of normal human tissue samples. (wikipedia.org)
  • Disease
  • Currently, FAM166 is not associated within a human disease or condition. (wikipedia.org)
  • A significant GEO Profile relating to MGC50722 was a study done on male fertility in humans looking at the disease teratozoospermia (GEO Profile ID: 38113951). (wikipedia.org)
  • Family
  • The specific function of the paired box gene 7 is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. (wikipedia.org)
  • Since then, ten members of the FABP family have been identified on the human genome. (wikipedia.org)
  • Female
  • In humans, LENG9 is predicted to play a role in fertility and reproductive disorders associated with female endometrium structures. (wikipedia.org)