full name
methylmalonic aciduria (cobalamin deficiency) cblB type

synonyms
ATR, cblB, cob, MMAB, ENSG00000139428

HGNC
HGNC:19331

Entrez Gene
Gene:326625

ENSEMBL
ENSG00000139428

location
chr: 12
start: 109991520
stop: 110011358
strand: -

OMIM
OMIM:607568: MMAB (Autosomal recessive inheritance)
OMIM:251110: Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type

transcripts
NM_052845.3
NR_038118.1

pathways
Cobalamin (Cbl, vitamin B12) transport and metabolism [NCBI:1270152] [REACTOME:R-HSA-196741] [PUBMED:21312325] [PUBMED:10448521] [PUBMED:20185591] [PUBMED:19832808]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
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]
Porphyrin and chlorophyll metabolism [NCBI:83021] [KEGG:hsa00860] [PUBMED:12195810] [PUBMED:11283349] [PUBMED:10217486] [PUBMED:11007789] [PUBMED:10518530] [PUBMED:12055304] [PUBMED:12196148] [PUBMED:17506685] [PUBMED:16245042] [PUBMED:23922391] [PUBMED:23042036] [PUBMED:9461500]