Entrez gene ID | | 23474 |
Official gene symbol | | ETHE1 |
Full name | | ethylmalonic encephalopathy 1 |
Aliases | | ,HSCO,YF13H12, |
Gene summary | | This gene encodes a sulfur dioxygenase that localizes within the mitochondrial matrix. The enzyme functions in sulfide catabolism. Mutations in this gene result in ethylmalonic encephalopathy. |
Location | | Chromosome: 19 Locus: 19q13.31 |
Gene position | | 44031396 - 44010871 Map Viewer |
Gene orientation | | minus |
Gene size | | 20526 bp |
Gene sequence |
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OMIM ID | | 608451 |
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