MMACHC

Available structuresPDBOrtholog search:List of PDB id codes, , ,

Available structures

PDBOrtholog search:

List of PDB id codes, , ,

List of PDB id codes

, , ,

Identifiers

Aliases, cblC, methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria, metabolism of cobalamin associated C

External IDsOMIM: ; MGI: ; HomoloGene: ; GeneCards: ; OMA:

Gene location ( Human )

Chr.Chromosome 1 (human)

Band 1p34.1 Start 45,500,300 bp

End45,513,382 bp

Gene location ( Mouse )

Chr.Chromosome 4 (mouse)

Band 4|4 D1 Start 116,559,476 bp

End116,565,603 bp

RNA expression patternHumanMouse (ortholog)right lobe of liver muscle of thigh stromal cell of endometrium ventricular zone mucosa of transverse colon testicle right auricle of heart left ventricle prefrontal cortex right adrenal glandmyocardium of ventricle sternocleidomastoid muscle soleus muscle digastric muscle temporal muscle tibialis anterior muscle triceps brachii muscle vastus lateralis muscle extraocular muscle gastrocnemius musclen/a

RNA expression pattern

HumanMouse (ortholog)right lobe of liver muscle of thigh stromal cell of endometrium ventricular zone mucosa of transverse colon testicle right auricle of heart left ventricle prefrontal cortex right adrenal glandmyocardium of ventricle sternocleidomastoid muscle soleus muscle digastric muscle temporal muscle tibialis anterior muscle triceps brachii muscle vastus lateralis muscle extraocular muscle gastrocnemius muscle

Human Mouse (ortholog)

right lobe of liver muscle of thigh stromal cell of endometrium ventricular zone mucosa of transverse colon testicle right auricle of heart left ventricle prefrontal cortex right adrenal glandmyocardium of ventricle sternocleidomastoid muscle soleus muscle digastric muscle temporal muscle tibialis anterior muscle triceps brachii muscle vastus lateralis muscle extraocular muscle gastrocnemius muscle

right lobe of liver muscle of thigh stromal cell of endometrium ventricular zone mucosa of transverse colon testicle right auricle of heart left ventricle prefrontal cortex right adrenal gland

myocardium of ventricle sternocleidomastoid muscle soleus muscle digastric muscle temporal muscle tibialis anterior muscle triceps brachii muscle vastus lateralis muscle extraocular muscle gastrocnemius muscle

n/a

Gene ontologyMolecular functionCellular componentBiological processSources: /

Gene ontology

Molecular function

Cellular component

Biological process

Sources: /

OrthologsSpeciesHumanMouseEntrez Ensembl UniProtRefSeq (mRNA)RefSeq (protein)Location (UCSC)PubMed search

Orthologs

Species Human Mouse

Entrez

Ensembl

UniProt

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

PubMed search

Wikidata

View/Edit HumanView/Edit Mouse

Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene.

Function

The C-terminal region of the product of the MMACHC gene is similar to TonB, a bacterial protein involved in energy transduction for cobalamin uptake. The MMACHC gene product catalyzes the decyanation of cyanocobalamin as well as the dealkylation of alkylcobalamins including methylcobalamin and adenosylcobalamin. The MMACHC gene product is characterised as a cyanocobalamin reductase (cyanide-eliminating) and a alkylcobalamin reductase. It enables the interconversion of cyano- and alkylcobalamins.

Clinical significance

Mutations are associated with combined homocystinuria and methylmalonic acidemia.

MMACHC

Function

Clinical significance

Further reading

External links