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Gene: TAZ (tafazzin) Homo sapiens
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Symbol: TAZ
Name: tafazzin
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BTHS; CMD3A; EFE; EFE2; FLJ27390; G4.5; LVNCX; Taz1; transcriptional coactivator with PDZ-binding motif; XAP-2
Orthologs:
Mus musculus (house mouse) : Taz (tafazzin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Taz (tafazzin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Taz (tafazzin)
Pan paniscus (bonobo/pygmy chimpanzee) : TAZ (tafazzin)
Canis lupus familiaris (dog) : TAZ (tafazzin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Taz (tafazzin)
Sus scrofa (pig) : TAZ (tafazzin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI 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]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,411,518 - 154,421,726 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,639,877 - 153,650,065 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,293,071 - 153,303,259 (+)NCBINCBI36hg18NCBI36
Build 34X153,160,723 - 153,170,908NCBI
CeleraX153,800,935 - 153,811,119 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,217,267 - 142,227,597 (+)NCBIHuRef
CHM1_1X153,551,502 - 153,561,710 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on TAZ
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1351979
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.