Entrez gene ID | | 66826 |
Official gene symbol | | Taz |
Full name | | tafazzin |
Aliases | | 5031411C02Rik,9130012G04Rik,AW107266,AW552613,G4.5 |
Gene summary | | This gene encodes a mitochondrial phospholipid-lysophospholipid transacylase necessary for normal composition and content of cardiolipin. In humans, mutations of this gene result in Barth syndrome, most often characterized by cardioskeletal myopathy, neutropenia and abnormal mitochondria. This gene is distinct from the gene encoding transcriptional coactivator with PDZ binding motif. Both genes share the gene symbol Taz. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq] |
Location | | Chromosome: 0 Locus: X C1-C3 |
Gene position | | 71528036 - 71535490 Map Viewer |
Gene orientation | | plus |
Gene size | | 7455 bp |
Gene sequence |
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