Metazoan complexes |
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Emili & Marcotte labs |
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Details of AIFM1 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| AIFM1 | AIF,PDCD8 | O95831 | AIFM1_HUMAN | 9131 | ENSG00000156709 | Apoptosis-inducing factor 1, mitochondrial | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816]: A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy. Note=The disease is caused by mutations affecting the gene represented in this entry. | 300816 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Aifm1 | AIF | wah-1 | --- |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
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