protein Mpv17; glomerulosclerosis protein MPV17, human homolog (MPV17)

Function

• role in mitochondria homeostasis
• may be involved in metabolism of reactive oxygen species & control of oxidative phosphorylation & mitochondrial DNA (mtDNA) maintenance

Structure

• belongs to the peroxisomal membrane protein PXMP2/4 family

Compartment

• mitochondrial inner membrane; multi-pass membrane protein

Expression

• ubiquitous
• expressed in pancreas, kidney, muscle, liver, lung, placenta, brain & heart

Pathology

• defects in MPV17 are a cause of hepatocerebral mitochondrial DNA depletion syndrome
• defects in MPV17 are the cause of Navajo neurohepatopathy

More general terms

• transmembrane 4 protein
• mitochondrial membrane protein

Database

• UniProt: http://www.uniprot.org/uniprot/P39210.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4358
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4358
• OMIM: https://mirror.omim.org/entry/137960
• OMIM: https://mirror.omim.org/entry/251880
• OMIM: https://mirror.omim.org/entry/256810