Home > Product > Antibody > Rabbit Anti-TMEM70 antibody
FLJ20533; MC5DN2; mitochondrial; OTTHUMP00000226855; OTTHUMP00000226856; TMEM70; TMM70_HUMAN; Transmembrane protein 70; Transmembrane protein 70 mitochondrial; Transmembrane protein 70, mitochondrial.
Cat:
SL12664R
Species Reactivity:
(predicted: Human,)
Immunogen:
KLH conjugated synthetic peptide derived from human TMEM70:31-130/260
Format:
Liquid
Storage instructions:
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Concentration:
1mg/ml
Clonality:
Polyclonal
Isotype:
IgG
Applications:
ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500(Paraffin sections need to do antigen repair)not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host:
Rabbit
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Unit:
Price: $
Product PDFs
Datasheet:


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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