Tafazzin - CISMeF

Preferred Label : Tafazzin;

NCIt synonyms : Taz; Protein G4.5; EC 2.3.1.-; Del_exon_5; TAZ-delta5; Exon-5-deleted; Tafazzin Isoform 3;

NCIt definition : Tafazzin (262 aa, 30 kDa) is encoded by the human TAFAZZIN gene. This protein is involved in transacylation between lysophospholipids and phospholipids.;

NCIt note : UniProt has chosen isoform 3 as the canonical sequence. This isoform lacks the amino acids encoded by exon 5 of the TAFAZZIN gene.; Multiple inactive isoforms of tafazzin exist where exon 7 has been deleted. (UniProt);

NCI Metathesaurus CUI : CL374237;

Details

Origin ID

C190545;

UMLS CUI

C0666979;

OMIM relation
- Tafazzin, phospholipid-lysophospholipid transacylase [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- TAFAZZIN protein, human [MeSH Supplementary Concept]
- TAFAZZIN protein, human [MeSH concept]
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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