Gene: BYSL

Alternate names for this Gene: BYSTIN|Enp1

Gene Summary: Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: bystin like

Type of Gene: protein-coding

rs2479724 in BYSL gene and Age at menarche PMID 25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs10947996 in BYSL gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs2479724 in BYSL gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.