Tafazzin - tafazzin, phospholipid-lysophospholipid transacylase Gene

Mus musculus

Also known as Taz; G4.5; 5031411C02Rik; 9130012G04Rik

Gene ID: 66826 | Gene type: protein coding

About Tafazzin

Summary

This gene encodes a mitochondrial phospholipid-lysophospholipid transacylase necessary for normal composition and content of cardiolipin. In humans, mutations of this gene result in Barth syndrome, most often characterized by cardioskeletal myopathy, neutropenia and abnormal mitochondria. This gene is distinct from the gene encoding transcriptional coactivator with PDZ binding motif. Both genes share the gene symbol Taz. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]

Tafazzin Products(5)

mRNA	Protein	Name
NM_001173547.2	NP_001167018.1	tafazzin isoform 1
NM_001242615.2	NP_001229544.1	tafazzin isoform 3
NM_001242616.2	NP_001229545.1	tafazzin isoform 4
NM_001290738.1	NP_001277667.1	tafazzin isoform 5
NM_181516.6	NP_852657.1	tafazzin isoform 2

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Reference	Source
involved in cardiolipin metabolic process	IMP IMP: Inferred from mutant phenotype	21068380	MGI
involved in heart morphogenesis	IMP IMP: Inferred from mutant phenotype	21068380	MGI
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	21068380	MGI
involved in mitophagy	IMP IMP: Inferred from mutant phenotype	25919711	MGI
involved in spermatocyte division	IMP IMP: Inferred from mutant phenotype	26114544	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

tafazzin

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14184	TAFAZZIN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Tafazzin	NCBI	NCBI:6901

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