Gene content
Symbol	TAZ ( by HUGO)
Name	Tafazzin
Category	Other
Alias	tafazzin EFE2 CMD3A EFE Protein G4.5 G4.5 BTHS LVNCX Barth Syndrome Cardiomyopathy Dilated 3A (X-Linked) Endocardial Fibroelastosis 2 Taz1
Cytogenetic band	NCBI: Xq28    Ensembl: Xq28
Protein information	TAZ_HUMAN Size: 292 amino acids Mass: 33459 Da Tissue specificity: High levels in cardiac and 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 and fibroblasts, but not in heart and skeletal Function: UniProtKB/Swiss-Prot Summary: TAZ_HUMAN, Q16635 Function: Some isoforms may be involved in cardiolipin (CL) metabolism Similarity: Belongs to the taffazin family [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR000872	Tafazzin	Tafazzin	Family
	IPR002123	Plipid/glycerol_acylTrfase	Phospholipid/glycerol acyltransferase	Domain
Blocks	IPB000872	Tafazzin signature	Tafazzin signature
	IPB002123	Phospholipid/glycerol acyltransferase	Phospholipid/glycerol acyltransferase

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	cardiac muscle contraction	IMP	GOA	17043667
	cardiac muscle tissue development	IMP	GOA	17043667
	cardiolipin biosynthetic process	IMP	GOA	11118295
	cristae formation	IMP	GOA	17043667
	heart development	IMP	GOA	17043667
	hemopoiesis	IMP	GOA	17043667
	mitochondrial ATP synthesis coupled electron transport	IDA	GOA	15304507
	mitochondrial respiratory chain complex I assembly	IMP	GOA	16857210
	muscle contraction	IMP	GOA	17043667
	skeletal muscle tissue development	IMP	GOA	17043667
Cellular Component	mitochondrion	IC	GOA	16857210
	mitochondrion	IDA	GOA	15304507
Molecular Function	1-acylglycerophosphocholine O-acyltransferase activity	IDA	GOA	12930833

Disorder & Mutation
Source	Disease
SWISS-PROT	Barth syndrome (BTHS) [MIM:302060]: An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non-compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood. Note=The disease is caused by mutations affecting the gene represented in this entry

TAZ cross reference
PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene