full name
CD320 molecule

synonyms
8D6, 8D6A, TCBLR, CD320, ENSG00000167775

HGNC
HGNC:16692

Entrez Gene
Gene:51293

ENSEMBL
ENSG00000167775

location
chr: 19
start: 8367011
stop: 8373439
strand: -

OMIM
OMIM:606475: CD320 (Autosomal recessive inheritance)
OMIM:613646: Methylmalonic aciduria, transient, due to transcobalamin receptor defect

transcripts
NM_001165895.1
NM_016579.3

pathways
Cobalamin (Cbl, vitamin B12) transport and metabolism [NCBI:1270152] [REACTOME:R-HSA-196741] [PUBMED:21312325] [PUBMED:10448521] [PUBMED:20185591] [PUBMED:19832808]
Defective CD320 causes methylmalonic aciduria [NCBI:1268973] [REACTOME:R-HSA-3359485] [PUBMED:20524213]
Defects in cobalamin (B12) metabolism [NCBI:1268960] [REACTOME:R-HSA-3296469] [PUBMED:21312325] [PUBMED:16846473] [PUBMED:9587028] [PUBMED:21114891] [PUBMED:22547309]
Defects in vitamin and cofactor metabolism [NCBI:1268959] [REACTOME:R-HSA-3296482]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases of metabolism [NCBI:1268939] [REACTOME:R-HSA-5668914]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Metabolism of water-soluble vitamins and cofactors [NCBI:1270145] [REACTOME:R-HSA-196849]