Conserved Protein Domain Family
Mpv17_PMP22

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pfam04117: Mpv17_PMP22 
Mpv17 / PMP22 family
The 22-kDa peroxisomal membrane protein (PMP22) is a major component of peroxisomal membranes. PMP22 seems to be involved in pore forming activity and may contribute to the unspecific permeability of the organelle membrane. PMP22 is synthesized on free cytosolic ribosomes and then directed to the peroxisome membrane by specific targeting information. Mpv17 is a closely related peroxisomal protein. In mouse, the Mpv17 protein is involved in the development of early-onset glomerulosclerosis. More recently a homolog of Mpv17 in S. cerevisiae has been been found to be an integral membrane protein of the inner mitochondrial membrane where it has been proposed to have a role in ethanol metabolism and tolerance during heat-shock. Defects in MPV17 is associated with mitochondrial DNA depletion syndrome (MDDS) and Navajo neurohepatopathy (NNH). MDDS 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. NNH is an autosomal recessive disease that is prevalent among Navajo children in the South Western states of America. 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 NNH have been described. Mitochondrial DNA depletion was detected in the livers of patients, suggesting a primary defect in mtDNA maintenance.
Statistics
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PSSM-Id: 397992
View PSSM: pfam04117
Aligned: 517 rows
Threshold Bit Score: 31.6974
Threshold Setting Gi: 215503134
Created: 20-May-2020
Updated: 7-Aug-2020
Structure
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Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
CBN75087     300 GMLE-SRPlRKSILPALRREFWPAVQGSWLvslLFCPLQFATFRYLPLEFRVLSVNACDIAWTSVMS 365 Ectocarpus siliculosus
EPT03908     134 AVINgARS-VDEVTKTVKAGFMSVLRATWM---TLPLTIVIAQRYLAPELWVPFMNLVQFVTGTYFN 196 Fomitopsis pinicola FP-58527...
EMD42168     136 AVINgART-AKDVVRTVKGGFVRVLRVTIM---TQPVVIVFAQRFLAPELWVPFFNLVQFAVGTYTN 198 Gelatoporia subvermispora B
EKM83567     134 AVINgATS-ADEVLKTVKGGFLAVIRVTWI---ISPVVTVIAQKYIPIELWVPFFNSVQFFIGTYFN 196 Agaricus bisporus var. burne...
EGO05172     134 AVINgAKS-LQEVIRTVKGGFFSVIRITWL---ISPISMTIAQRFVPVELWVPFFNLIQFTLGTYFN 196 Serpula lacrymans var. lacry...
EFJ02339     133 AVINgAKT-VDDVLKTVKTGFFSVIRITWV---VSPLSLSIAQGFIPVELWVLFFNAVQFVLGTFFN 195 Schizophyllum commune H4-8
XP_001873341   2 AIINgATT-LDEVIKTIKGGFFAVIRISWI---VSPLSLIIAQKFIPVELWVPFFNCVQFVLGTYFN 64  Laccaria bicolor S238N-H82
XP_001829050 132 AVINgATS-IAEIVKTIKAGFFSVIRVSWI---VSPLSLAFAQRFVPVELWVPFFNAVQFVLGTYFN 194 Coprinopsis cinerea okayama7...
EMT72407     122 AVIAgART-TEQARAAVRAGLVPMTKAMCA---MHPVLITIATLFVPKEAWAPFFSLVGFCLGTFFN 184 Fusarium oxysporum f. sp. cu...
CCA69728     139 AVIGgARS-ADAIQATVMRGFLPMLKILWL---SSPTATLFAQSFLPPELWVPFFNVVSLVIGTFFS 201 Serendipita indica DSM 11827
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