full name
methylmalonic aciduria (cobalamin deficiency) cblA type

synonyms
cblA, MMAA, ENSG00000151611

HGNC
HGNC:18871

Entrez Gene
Gene:166785

ENSEMBL
ENSG00000151611

location
chr: 4
start: 146540540
stop: 146581187
strand: +

OMIM
OMIM:607481: MMAA (Autosomal recessive inheritance)
OMIM:251100: Methylmalonic aciduria, vitamin B12-responsive

transcripts
NM_172250.2

pathways
Cobalamin (Cbl, vitamin B12) transport and metabolism [NCBI:1270152] [REACTOME:R-HSA-196741] [PUBMED:21312325] [PUBMED:10448521] [PUBMED:20185591] [PUBMED:19832808]
Defective MMAA causes methylmalonic aciduria type cblA [NCBI:1268971] [REACTOME:R-HSA-3359475] [PUBMED:15523652] [PUBMED:12438653]
Defective MUT causes methylmalonic aciduria mut type [NCBI:1268972] [REACTOME:R-HSA-3359478] [PUBMED:16281286]
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]
Fatty acid, triacylglycerol, and ketone body metabolism [NCBI:1270010] [REACTOME:R-HSA-535734]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Metabolism of water-soluble vitamins and cofactors [NCBI:1270145] [REACTOME:R-HSA-196849]
Mitochondrial Fatty Acid Beta-Oxidation [NCBI:1270015] [REACTOME:R-HSA-77289] [PUBMED:10527676] [PUBMED:11826276] [PUBMED:7951672] [PUBMED:1431593]
Propionyl-CoA catabolism [NCBI:1270025] [REACTOME:R-HSA-71032]