Taz Gene Summary [Mouse]
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]
Details
| Type | Processed Transcript |
| Official Symbol | Taz |
| Official Name | tafazzin [Source:MGI Symbol;Acc:MGI:109626] |
| Ensembl ID | ENSMUSG00000009995 |
| Bio databases IDs | |
| Aliases | tafazzin |
| Synonyms | 5031411C02Rik, 9130012G04Rik, BTHS, CMD3A, EFE, EFE2, G4.5, LVNCX, tafazzin, phospholipid-lysophospholipid transacylase, TAZ, Taz1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Taz often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
- 1-acylglycerol-3-phosphate O-acyltransferase
- 1-acylglycerophosphocholine O-acyltransferase
- enzyme
- Acyltransferase
- O-acyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- Barth syndrome
- interstitial fibrosis
- ventricular noncompaction
- heart disease
- tumorigenesis
- cardiomyopathy
- left ventricular noncompaction
- primary dilated cardiomyopathy
- azoospermia
role in cell
- expression in
- fusion
- fusion in
- number
- proliferation
- apoptosis
- quantity
- formation
- formation in
- activation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cellular membrane
- Mitochondria
- mitochondrial intermembrane space
- mitochondrial outer membrane
- mitochondrial inner membrane
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Taz gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cristae formation
- positive regulation of cardiolipin metabolic process
- hemopoiesis
- positive regulation of ATP biosynthetic process
- cardiac muscle contraction
- inner mitochondrial membrane organization
- macromitophagy
- cardiac muscle tissue development
- mitochondrial ATP synthesis coupled electron transport
- mitochondrion organization
- heart development
- heart morphogenesis
- spermatocyte division
- skeletal muscle tissue development
- muscle contraction
- cardiolipin acyl-chain remodeling
- cardiolipin metabolic process
- mitochondrial respiratory chain complex I assembly
- cardiolipin biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial membrane
- mitochondrion
- mitochondrial outer membrane
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- 1-acylglycerol-3-phosphate O-acyltransferase activity
- 1-acylglycerophosphocholine O-acyltransferase activity
- O-acyltransferase activity