TAFAZZIN wt Allele

Preferred Label : TAFAZZIN wt Allele;

NCIt synonyms : TAZ; EFE2; Cardiomyopathy, Dilated 3A (X-Linked) Gene; G4.5; LVNCX; BTHS; Tafazzin, Phospholipid-Lysophospholipid Transacylase wt Allele; EFE; TAZ1; Endocardial Fibroelastosis 2 Gene; CMD3A; Barth Syndrome Gene;

NCIt definition : Human TAFAZZIN wild-type allele is located in the vicinity of Xq28 and is approximately 10 kb in length. This allele, which encodes tafazzin protein, plays a role in phospholipid metabolism, including cardiolipin remodeling. Mutations in the gene are associated with Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis and left ventricular noncompaction.;

NCIt note : TAZ (GeneID 6901) and WWTR1 (GeneID 25937) genes share the TAZ symbol as a synonym.;

NCI Metathesaurus CUI : CL1799172;

GenBank Accession Number : X92762;

Details

Origin ID

C190540;

UMLS CUI

C5780977;

Automatic exact mappings (from CISMeF team)
- WW domain containing transcription regulator 1 [ORDO Gene]
- Ww domain-containing transcription regulator 1 [OMIM gene]
OMIM relation
- Tafazzin, phospholipid-lysophospholipid transacylase [OMIM gene]
See also inter- (CISMeF)
- Barth syndrome [OMIM Phenotype]
- Endocardial fibroelastosis [ICD-11 Subcategory]
- Endocardial fibroelastosis [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Tafazzin, phospholipid-lysophospholipid transacylase [OMIM gene]
- tafazzin, phospholipid-lysophospholipid transacylase [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq28 [NCIt concept]
gene_is_element_in_pathway
- Glycerophospholipid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Cardiac Muscle Contraction [NCIt concept]
- Organogenesis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients