TIMM8A (translocase of inner mitochondrial membrane 8 homolog A (yeast))

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Keyword

Gene: TIMM8A (translocase of inner mitochondrial membrane 8 homolog A (yeast)) Homo sapiens

Symbol:

TIMM8A

Name:

translocase of inner mitochondrial membrane 8 homolog A (yeast)

Description:

This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

DDP; DDP1; deafness dystonia protein 1; deafness/dystonia peptide; DFN1; MGC12262; mitochondrial import inner membrane translocase subunit Tim8 A; MTS; OTTHUMP00000023681; TIM8; X-linked deafness dystonia protein

Orthologs:

Mus musculus : Timm8a1 (translocase of inner mitochondrial membrane 8A1) MGI
Rattus norvegicus : Timm8a1 (translocase of inner mitochondrial membrane 8 homolog a1 (yeast))

Related Pseudogenes:

TIMM8AP1

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	X	100,567,642 - 100,570,955	-	NCBI
Human Genome Assembly HuRef	X	90,406,792 - 90,410,105	-	NCBI
Human Genome Assembly GRCh37	X	100,600,644 - 100,603,957	-	NCBI
Human Genome Assembly Build 36	X	100,487,306 - 100,490,343	-	NCBI
Human Cytogenetic Map	X	q22.1		NCBI
Human Genome Assembly	X	100,406,794 - 100,409,832		NCBI