full name
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

synonyms
cblC, RP11-291L19.3, MMACHC, ENSG00000132763

HGNC
HGNC:24525

Entrez Gene
Gene:25974

ENSEMBL
ENSG00000132763

location
chr: 1
start: 45965856
stop: 45976739
strand: +

OMIM
OMIM:609831: MMACHC (Autosomal recessive inheritance)
OMIM:277400: Methylmalonic aciduria and homocystinuria, cblC type

transcripts
NM_015506.2

pathways
Cobalamin (Cbl, vitamin B12) transport and metabolism [NCBI:1270152] [REACTOME:R-HSA-196741] [PUBMED:21312325] [PUBMED:20185591] [PUBMED:19832808] [PUBMED:10448521]
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC [NCBI:1268966] [REACTOME:R-HSA-3359474] [PUBMED:16311595]
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD [NCBI:1268967] [REACTOME:R-HSA-3359473] [PUBMED:18385497]
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]
Vitamin digestion and absorption [NCBI:199556] [KEGG:hsa04977] [PUBMED:16206251] [PUBMED:14977409] [PUBMED:16688755] [PUBMED:19056639] [PUBMED:18841274] [PUBMED:20185591] [PUBMED:16462170] [PUBMED:20724488] [PUBMED:20166147] [PUBMED:11340090] [PUBMED:11984580] [PUBMED:19173758] [PUBMED:14642860]