| Gene Information | |
|---|---|
| Gene Name | MMADHC |
| Organism | Homo sapiens (Human) |
| Gene Length | 296 |
| Protein Names | Cobalamin trafficking protein CblD (CblD) (Methylmalonic aciduria and homocystinuria type D protein, mitochondrial) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000168288 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q9H3L0 |
| Gene Card | MMADHC |
| Uniprot ID | Q9H3L0 |
| Pfam | PF10229 |
| In ASD | no |
| Allosteric Prediction | no (-1.060420337) |
| Ortholog in Animals | Alpaca_ MMADHC ( ortholog_one2one ) Dog_ MMADHC ( ortholog_one2one ) GuineaPig_ MMADHC ( ortholog_one2one ) Macaque_ MMADHC ( ortholog_one2one ) Mouse_ Mmadhc ( ortholog_one2one ) Pig_ MMADHC ( ortholog_one2one ) Rat_ Mmadhc ( ortholog_one2one ) Rabbit_ MMADHC ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed at high levels. {ECO:0000269|PubMed:18385497}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5CUZ (X-ray 2.31A ) 5CV0 (X-ray 1.90A ) 6X8Z (X-ray 2.50A ) |
| DBSNP | rs118204045 rs118204046 rs118204044 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:23270877}. Mitochondrion {ECO:0000269|PubMed:23270877}. |
| Mouse PG classification | NA |
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