Version 5.4
| Homo sapiens Gene: SDHAF1 | |||||
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| Summary | |||||
| InnateDB Gene | IDBG-46100.6 | ||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||
| Gene Symbol | SDHAF1 | ||||
| Gene Name | succinate dehydrogenase complex assembly factor 1 | ||||
| Synonyms | |||||
| Species | Homo sapiens | ||||
| Ensembl Gene | ENSG00000205138 | ||||
| Encoded Proteins |
succinate dehydrogenase complex assembly factor 1
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||
| Entrez Gene | |||||
| Summary |
The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010] |
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| Gene Information | |||||
| Type | Protein coding | ||||
| Genomic Location | Chromosome 19:35995199-35996315 | ||||
| Strand | Forward strand | ||||
| Band | q13.12 | ||||
| Transcripts |
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| Interactions | |||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||
| No orthologs found for this gene | |||||
| Cross-References | |||||
| SwissProt | A6NFY7 | ||||
| TrEMBL | |||||
| UniProt Splice Variant | |||||
| Entrez Gene | 644096 | ||||
| UniGene | |||||
| RefSeq | NM_001042631 | ||||
| HUGO | HGNC:33867 | ||||
| OMIM | 612848 | ||||
| CCDS | CCDS32999 | ||||
| HPRD | |||||
| IMGT | |||||
| EMBL | AF038458 BC137516 BC137517 | ||||
| GenPept | AAI37517 AAI37518 | ||||
| RNA Seq Atlas | 644096 | ||||