CD320 Chromosome 19
CD320 molecule
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What This Gene Does
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]
Gene Info
Gene Group
CD molecules
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000167775
Associated Conditions (2)
Methylmalonic acidemia due to transcobalamin receptor defect
CD320-related disorder
Key Variants
RS760524953
Conflicting classifications of pathogenicity
Methylmalonic acidemia due to transcobalamin receptor defect, Methylmalonic acidemia due to transcobalamin receptor defect
Health Risk
RS778033415
Conflicting classifications of pathogenicity
Methylmalonic acidemia due to transcobalamin receptor defect, Methylmalonic acidemia due to transcobalamin receptor defect
Health Risk
RS150384171
Conflicting classifications of pathogenicity; other
Methylmalonic acidemia due to transcobalamin receptor defect, CD320-related disorder, Methylmalonic acidemia due to transcobalamin receptor defect
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760524953 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic acidemia due to transcobalamin receptor defect, Methylmalonic acidemia due to transcobalamin receptor defect |
| RS778033415 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic acidemia due to transcobalamin receptor defect, Methylmalonic acidemia due to transcobalamin receptor defect |
| RS150384171 | Health Risk | Conflicting classifications of pathogenicity; other | Methylmalonic acidemia due to transcobalamin receptor defect, CD320-related disorder, Methylmalonic acidemia due to transcobalamin receptor defect |