full name
methylmalonic aciduria and homocystinuria, cblD type

synonyms
C2orf25, cblD, CL25022, MMADHC, ENSG00000168288

HGNC
HGNC:25221

Entrez Gene
Gene:27249

ENSEMBL
ENSG00000168288

location
chr: 2
start: 150426147
stop: 150444330
strand: -

OMIM
OMIM:611935: MMADHC (Autosomal recessive inheritance)
OMIM:277410: Homocystinuria, cblD type, variant 1
OMIM:277410: Methylmalonic aciduria and homocystinuria, cblD type
OMIM:277410: Methylmalonic aciduria, cblD type, variant 2

transcripts
NM_015702.2

pathways
Cobalamin (Cbl, vitamin B12) transport and metabolism [NCBI:1270152] [REACTOME:R-HSA-196741] [PUBMED:21312325] [PUBMED:10448521] [PUBMED:20185591] [PUBMED:19832808]
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]