ImmunoDeficiency Resource (IDR)

Names

HUGO name: TAZ

Alias(es):

Localization

Reference sequences

Chromosomal location

Maps

Markers

Variations / Mutations

• TAZbase; Mutation registry for Barth syndrome

Other gene-based resources

Description

Protein function:

Some isoforms may be involved in cardiolipin metabolism.

Subcellular location:

Isoforms with hydrophobic n-terminus are thought to be membrane anchored. The shortest forms, lacking the hydrophobic stretch, may be soluble cytoplasmic proteins.

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 muscle. Some forms appear restricted to cardiac and skeletal muscle or to leukocytes.

Similarity:

Belongs to the taffazin family.

Structures (PDB)

Domains

Hydrophilic domain: 124-194

Other features

Other related resourses:

Expression pattern for human

Animal models

Mouse