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MMACHC

From SNPedia

is agene
is mentioned by
Full namemethylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
EntrezGene25974
PheGenI25974
VariationViewer25974
ClinVarMMACHC
GeneCardsMMACHC
dbSNP25974
SADR25974
HugeNav25974
wikipediaMMACHC
googleMMACHC
gopubmedMMACHC
EVSMMACHC
HEFalMpMMACHC
MyGene2MMACHC
23andMeMMACHC
UniProtQ9Y4U1
OMIM609831
# SNPs22
 Max MagnitudeChromosome positionSummary
rs121918240845,508,282
rs121918241845,508,329
rs121918242845,508,266
rs121918243845,508,848
rs140522266045,508,806
rs201312386045,508,838
rs370596113845,508,847
rs398124292845,507,545
rs398124293245,508,913
rs398124295845,508,974
rs398124296845,509,024
rs538023671045,508,982
rs556977618045,507,550
rs587776889045,508,975
rs606231425045,508,830
rs779893448045,500,335
rs796051995045,507,491
rs796051996045,508,355
rs796051997045,508,966
rs796051998045,508,323
rs796051999045,508,811
rs796052000045,508,263

The MMACHC gene encodes a protein known as Methylmalonic aciduria and homocystinuria type C (protein). Mutations in the MMACHC gene are associated with an inborn error in metabolism known as methylmalonic acidemia, which may also be known as methylmalonic aciduria and homocystinuria, cblC type. (The cblA, cblB, cblD and cblF types are caused by mutations in other genes; specifically, the MMAA, MMAB, MMADHC and LMBRD1 genes, respectively.) Wikipedia

This condition is typically inherited as an autosomal recessive condition.

MMACHC SNPs in SNPedia include: