Tafazzin Full-Length

Preferred Label : Tafazzin Full-Length;

NCIt synonyms : TAFAZZIN; EC 2.3.1.-; TAZ-FL; Tafazzin Isoform 1;

NCIt definition : Tafazzin full-length (292 aa, 33 kDa) is encoded by the human TAFAZZIN gene. This protein plays a role in the transacylation between lysophosphatidates and phosphatidylglycerol.;

NCIt note : This isoform includes the amino acids encoded by exon 5 of the TAFAZZIN gene. (UniProt); Multiple inactive isoforms of tafazzin exist where exon 7 has been deleted. (UniProt);

NCI Metathesaurus CUI : CL1799173;

Details

Origin ID

C190546;

UMLS CUI

C5781087;

OMIM relation
- Tafazzin, phospholipid-lysophospholipid transacylase [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- TAFAZZIN Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Glycerophospholipid Metabolism Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Cardiac Muscle Contraction [NCIt concept]
- Organogenesis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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