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Rabbit Anti-TMEM70 antibody
This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Function:
Involved in biogenesis of mitochondrial ATP synthase.
Subcellular Location:
Mitochondrion inner membrane.
DISEASE:
Defects in TMEM70 are a cause of mitochondrial encephalocardiomyopathy neonatal due to ATP synthase deficiency (MT-ATPSD) [MIM:604273]; also known as ATPase deficiency. A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.
Similarity:
Belongs to the TMEM70 family.
SWISS:
Q9BUB7
Gene ID:
54968
Database links:
Entrez Gene: 54968 Human
Entrez Gene: 70397 Mouse
Entrez Gene: 500384 Rat
Omim: 612418 Human
SwissProt: Q9BUB7 Human
SwissProt: Q921N7 Mouse
Unigene: 106650 Human
Unigene: 194225 Mouse
Unigene: 22296 Rat
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