| Gene Information | |
|---|---|
| Gene Name | MMACHC |
| Organism | Homo sapiens (Human) |
| Gene Length | 282 |
| Protein Names | Cyanocobalamin reductase / alkylcobalamin dealkylase (Alkylcobalamin:glutathione S-alkyltransferase) (EC 2.5.1.151) (CblC) (Cyanocobalamin reductase (cyanide-eliminating)) (EC 1.16.1.6) (Methylmalonic aciduria and homocystinuria type C protein) (MMACHC) |
| Target Name | methylmalonic aciduria and homocystinuria type c protein |
| Target Type | NA |
| Gene Age | 1488 ( ENSG00000132763 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q9Y4U1 |
| Gene Card | MMACHC |
| Uniprot ID | Q9Y4U1 |
| Pfam | PF16690 |
| In ASD | no |
| Allosteric Prediction | no (-0.904843476) |
| Ortholog in Animals | Alpaca_ MMACHC ( ortholog_one2one ) GuineaPig_ MMACHC ( ortholog_one2one ) Macaque_ MMACHC ( ortholog_one2one ) Mouse_ Mmachc ( ortholog_one2one ) Pig_ MMACHC ( ortholog_one2one ) Rat_ Mmachc ( ortholog_one2one ) Rabbit_ MMACHC ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes. {ECO:0000269|PubMed:16311595}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 3SBY (X-ray 2.71A ) 3SBZ (X-ray 2.00A ) 3SC0 (X-ray 1.95A ) 3SOM (X-ray 2.40A ) 5UOS (X-ray 2.51A ) |
| DBSNP | rs546099787 rs121918240 rs372670428 rs140522266 rs140522266 rs1553162910 rs1002571805 rs370596113 rs121918243 rs200895671 rs1233135084 rs371753672 rs538023671 rs35219601 |
| Subcellular location [CC] | Cytoplasm, cytosol {ECO:0000269|PubMed:23270877}. |
| Mouse PG classification | LPG |
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