XB-FEAT-1010194: Difference between revisions
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= | = tafazzin = | ||
This is the community wiki page for the gene '' | This is the community wiki page for the gene ''tafazzin'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase. | ||
=summary for human TAFAZZIN from NCBI= | |||
This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008] | |||
=Annotation information= | |||
Note: TAZ (GeneID 6901) and WWTR1 (GeneID 25937) loci share the TAZ symbol/alias in common. TAZ is a widely used alternative name for the transcriptional coactivator with PDZ-binding motif (WWTR1) conflicting with the official symbol for tafazzin (TAZ). [19 Jun 2012] | |||
=nomenclature changes= | |||
03.17.2021 | |||
Human symbol has changed for genepage ID: 1010194 From TAZ to TAFAZZIN | |||
Xenopus symbol has changed for genepage ID: 1010194 From taz to tafazzin | |||
Human symbol has changed for Entrez Gene: 6901. From TAZ to TAFAZZIN | |||
Human name has changed for Entrez Gene: 6901. From tafazzin to tafazzin, phospholipid-lysophospholipid transacylase | |||
Revision as of 09:56, 17 March 2021
tafazzin
This is the community wiki page for the gene tafazzin please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.
summary for human TAFAZZIN from NCBI
This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]
Annotation information
Note: TAZ (GeneID 6901) and WWTR1 (GeneID 25937) loci share the TAZ symbol/alias in common. TAZ is a widely used alternative name for the transcriptional coactivator with PDZ-binding motif (WWTR1) conflicting with the official symbol for tafazzin (TAZ). [19 Jun 2012]
nomenclature changes
03.17.2021 Human symbol has changed for genepage ID: 1010194 From TAZ to TAFAZZIN Xenopus symbol has changed for genepage ID: 1010194 From taz to tafazzin
Human symbol has changed for Entrez Gene: 6901. From TAZ to TAFAZZIN
Human name has changed for Entrez Gene: 6901. From tafazzin to tafazzin, phospholipid-lysophospholipid transacylase