Symbol: Name: ID: |
TAZ tafazzin GFS:1427 |
Gene name: | TAZ |
Chromosome: | Xq28 |
Previous Symbols: | CMD3A, EFE2, EFE |
Previous Names: | endocardial fibroelastosis 2, "cardiomyopathy, dilated 3A (X-linked)" |
Aliases: | BTHS, XAP-2, G4.5 |
Name Aliases: | Barth syndrome |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:109626 | Rat Genome Database ID: | RGD:1588532 |
HGNC ID: | HGNC:11577 | RefSeq IDs: | NM_000116 |
Entrez Gene ID: | 6901 | Ensembl Gene ID: | ENSG00000102125 |
VEGA IDs: | OTTHUMG00000033190 | UniProt ID: | Q16635 |
UCSC ID: | uc004fla.2 | OMIM ID: | 300394 |
Pubmed: | PMID8042670 | ||
CCDS IDs: | CCDSCCDS14748.1 CCDS CCDS14749.1 CCDS CCDS14750.1 CCDS CCDS35450.1 |
The TAZ 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].
Function: Some isoforms may be involved in cardiolipin (CL) metabolism.
Products for TAZ gene
Catalog | Product Name | Application | Company |
GFS:E01427 | tafazzin; ELISA kit | ELISA | n/a |
GFS:A01427 | tafazzin; Anti | ANTIBODIES | n/a |
GFS:P01427 | tafazzin; Protien | Protien | n/a |