产品名称
MPV17 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/4358
Human Swissprot No.
P39210
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P39210/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/17527
Mouse Swissprot No.
P19258
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/P19258
Rat Gene Link
https://www.uniprot.org/uniprot/360463
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/Q5BK62
免疫原
Synthesized peptide derived from human MPV17 AA range: 45-95
特异性
This antibody detects endogenous levels of MPV17 at Human/Mouse/Rat
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008],
组织表达
Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart.
细胞定位
Mitochondrion inner membrane ; Multi-pass membrane protein .
功能
disease:Defects in MPV17 are a cause of hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]. MDS is a clinically heterogeneous group of disorders characterized by a reduction in mitochondrial DNA (mtDNA) copy number. Primary mtDNA depletion is inherited as an autosomal recessive trait and may affect single organs, typically muscle or liver, or multiple tissues. Individuals with the hepatocerebral form of mitochondrial DNA depletion syndrome have early progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids.,disease:Defects in MPV17 are the cause of Navajo neurohepatopathy (NN) [MIM:256810]. NN is an autosomal recessive disease that is prevalent among Navajo children in the southwestern United States. The major clinical features are hepatopathy, peripheral neuropathy, corneal anesthesia and scarring, acral mutilation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. Infantile, childhood, and classic forms of NN have been described. Mitochondrial DNA depletion was detected in the livers of patients, suggesting a primary defect in mtDNA maintenance.,function:Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance.,similarity:Belongs to the peroxisomal membrane protein PXMP2/4 family.,tissue specificity:Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
