Gene Ontology Classifications

Symbol
Name
ID

Mmachc
methylmalonic aciduria cblC type, with homocystinuria
MGI:1914346

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Automated description from the Alliance of Genome Resources (Release 7.4.0)

Predicted to enable several functions, including anion binding activity; cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity; and protein homodimerization activity. Predicted to be involved in cobalamin metabolic process; demethylation; and glutathione metabolic process. Located in mitochondrion. Is expressed in several structures, including embryo ectoderm; gut; heart; lung; and mesonephros mesenchyme. Used to study methylmalonic aciduria and homocystinuria type cblC. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblC. Orthologous to human MMACHC (metabolism of cobalamin associated C).

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Aspect

Category

Evidence

Gene Ontology Evidence Code Abbreviations:

Experimental:

EXP: Inferred from experiment
HMP: Inferred from high throughput mutant phenotype
HGI: Inferred from high throughput genetic interaction
HDA: Inferred from high throughput direct assay
HEP: Inferred from high throughput expression pattern
IDA: Inferred from direct assay
IEP: Inferred from expression pattern
IGI: Inferred from genetic interaction
IMP: Inferred from mutant phenotype
IPI: Inferred from physical interaction

Homology:

IAS: Inferred from ancestral sequence
IBA: Inferred from biological aspect of ancestor
IBD: Inferred from biological aspect of descendant
IKR: Inferred from key residues
IMR: Inferred from missing residues
IRD: Inferred from rapid divergence
ISA: Inferred from sequence alignment
ISM: Inferred from sequence model
ISO: Inferred from sequence orthology
ISS: Inferred from sequence or structural similarity

Automated:

IEA: Inferred from electronic annotation
RCA: Reviewed computational analysis

Other:

IC: Inferred by curator
NAS: Non-traceable author statement
ND: No biological data available
TAS: Traceable author statement

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Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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