MMACHC

is a	gene
is	mentioned by
Full name	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
EntrezGene	25974
PheGenI	25974
VariationViewer	25974
ClinVar	MMACHC
GeneCards	MMACHC
dbSNP	25974
Diseases	MMACHC
SADR	25974
HugeNav	25974
wikipedia	MMACHC
google	MMACHC
gopubmed	MMACHC
EVS	MMACHC
HEFalMp	MMACHC
MyGene2	MMACHC
23andMe	MMACHC
UniProt	Q9Y4U1
OMIM	609831
# SNPs	26

	Max Magnitude	Chromosome position
rs121918240	8	45,508,282
rs121918241	8	45,508,329
rs121918242	8	45,508,266
rs121918243	8	45,508,848
rs140522266	0	45,508,806
rs201312386	0	45,508,838
rs370596113	8	45,508,847
rs398124292	8	45,507,545
rs398124293	8	45,508,913
rs398124295	8	45,508,974
rs398124296	8	45,509,024
rs538023671	0	45,508,982
rs556977618	3	45,507,550
rs587776889	3	45,508,975
rs606231425	3	45,508,830
rs747527726	0	45,508,981
rs751828470	0	45,511,415
rs756980496	0	45,507,432
rs758477536	3	45,500,333
rs779893448	3	45,500,335
rs796051995	3	45,507,491
rs796051996	3	45,508,355
rs796051997	0	45,508,966
rs796051998	0	45,508,323
rs796051999	0	45,508,811
rs796052000	3	45,508,263

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:

rs398124292, aka 271A, which in one study accounted for 40% of all mutant alleles
rs121918240
rs121918241
rs121918242
rs121918243
rs587776889
rs398124295
rs398124293
rs370596113
rs556977618
rs398124296