tafazzin; protein G4.5 (TAZ, EFE2, G45, CMD3A)

Function: - some isoforms may be involved in cardiolipin (CL) metabolism Structure: - the hydrophilic domain may serve as an exposed loop interacting with other proteins - belongs to the taffazin family Compartment: - isoforms 1,3,4,5,7: membrane - isoforms 2,6,8,9: cytoplasm (probable) Alternative splicing: - named isoforms=9 - at least 10 isoforms Expression: - high expression in cardiac muscle & skeletal muscle - up to 10 isoforms can be present in different amounts in different tissues - most isoforms are ubiquitous - isoforms that lack the N-terminus are found in leukocytes & fibroblasts, but not in cardiac muscle & skeletal muscle - some forms appear restricted to cardiac muscle & skeletal muscle or to leukocytes Pathology: - mutations in the gene for tafazzin are associated with: - Barth syndrome - cardiomyopathy, dilated, 3A (CMD3A) - noncompaction of left ventricular myocardium - X-linked, familial isolated - autosomal dominant, familial

Properties

SIZE: entity length = 292 aa MW = 33 kD COMPARTMENT: cytoplasm MOTIF: transmembrane domain {1-30} hydrophilic {124-194}

Database Correlations

OMIM correlations MORBIDMAP 300394 UniProt Q16635 Pfam PF01553 Entrez Gene 6901 Kegg hsa:6901