PANTHER - Family Information

PANTHER Family Information

Family:

TAZ PROTEIN (TAFAZZIN) (PTHR12497)

Subfamilies:

PANTHER Links:

Tree MSA

Abstract:

Tafazzins [PMID:8630491] are expressed at high levels in cardiac and skeletal muscle. As many as 10 isoforms can be present in different amounts in different tissues. Isoforms with hydrophobic N-termini are thought to be membrane anchored, while shorter forms, lacking the hydrophobic stretch, may be cytoplasmic (these latter are found in leukocytes and fibroblasts, but not in heart and skeletal muscle). A central hydrophilic domain may serve as an exposed loop that interacts with other proteins. Defects in taz are the cause of Barth syndrome, a severe inherited disorder, often fatal in childhood. The disease is characterised by cardiac and skeletal myopathy, short stature and neutropenia [PMID:8630491].

InterPro Accession:

IPR000872

PANTHER Molecular Function:

Transferase

Acyltransferase

PANTHER Biological Process:

Other metabolism

Pathway Categories:

No pathway information available

Training Sequences:

HMM Length

368

Downloads:

HMM (HMMER format)

Genes assigned to this Family

	Total	Celera	FlyBase	NCBI
H. sapiens	2	1	0	1
M. musculus	2	1	0	1
R. norvegicus	2	1	0	1
D. melanogaster	1	0	1	0