Home
About
Citations
Statistics
Download
Login
Home
Genes
CD320
Gene - CD320
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]