人 TIMM8A (NM_001145951) cDNA克隆

Accession: NM_001145951
基因名称: TIMM8A
基因别名: DDP; MTS; DDP1; DFN1; TIM8
基因描述: Homo sapiens translocase of inner mitochondrial membrane 8 homolog A (yeast) (TIMM8A), transcript variant 2, mRNA.
种属: Human
CDS区长度: 147 (查看编码区序列)
翻译后氨基酸长度: 48 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate exon for its 3' terminus, compared to variant 1, which results in an isoform (2) with a shorter and distinct C-terminus, compared to isoform 1.
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G102695 人 TIMM8A (NM_001145951) cDNA克隆 pDONR223 2ug质粒 点击询价

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]