Entrez gene ID | | 51293 |
Official gene symbol | | CD320 |
Full name | | CD320 molecule |
Aliases | | ,8D6,8D6A,TCBLR, |
Gene summary | | The CD320 antigen gene encodes the transcobalamin receptor (TCBLR). Cellular uptake of cobalamin (vitamin B12) is mediated by receptors expressed on the cell surface. Transcobalamin II (TCN2; MIM 613441), a plasma protein secreted by endothelial cells, binds the cobalamin absorbed in the distal ileum and carries 10 to 30% of total circulating cobalamin. CD320 encodes a transcobalamin receptor that binds TCN2-cobalamin at the plasma membrane and internalizes the complex by endocytosis (Quadros et al., 2009 [PubMed 18779389]).[supplied by OMIM] |
Location | | Chromosome: 19 Locus: 19p13.3-p13.2 |
Gene position | | 8373240 - 8367011 Map Viewer |
Gene orientation | | minus |
Gene size | | 6230 bp |
Gene sequence |
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OMIM ID | | 606475 |
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