Gene Symbol | CD320 |
Entrez Gene ID | 51293 |
Full Name | CD320 molecule |
Synonyms | 8D6,8D6A,TCBLR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]. |
Disorder MIM: | |
Disorder Html: | Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3) |