Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:8D6_antigen
TCblR |
| gptkbp:associatedWith |
vitamin B12 metabolism
cobalamin deficiency |
| gptkbp:discoveredBy |
2006
|
| gptkbp:encodes |
CD320 protein
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000105281
113245 |
| gptkbp:expressedIn |
gptkb:placenta
immune cells |
| gptkbp:function |
mediates cellular uptake of vitamin B12
transcobalamin receptor |
| gptkbp:HGNC_ID |
HGNC:23398
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_19
|
| gptkbp:mutationAssociatedWith |
gptkb:homocystinuria
methylmalonic aciduria |
| gptkbp:OMIM |
609564
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
Q6UWY5
|
| gptkbp:bfsParent |
gptkb:CD320
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
CD320 gene
|