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

More general terms

• membrane protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6901
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6901
• OMIM: https://mirror.omim.org/entry/300394
• OMIM: https://mirror.omim.org/entry/302060
• OMIM: https://mirror.omim.org/entry/300069
• OMIM: https://mirror.omim.org/entry/300183
• OMIM: https://mirror.omim.org/entry/604169
• UniProt: http://www.uniprot.org/uniprot/Q16635.html