Conserved Protein Domain Family
Mpv17_PMP22

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pfam04117: Mpv17_PMP22 (this model, PSSM-Id:282035 is obsolete and has been replaced by 397992)
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 metabolizm 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: 282035
View PSSM: pfam04117
Aligned: 566 rows
Threshold Bit Score: 33.6124
Threshold Setting Gi: 241623885
Created: 25-Jun-2015
Updated: 5-Aug-2015
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:
Q175V8       113 RFEGKSHEDGVSNLNDLYKLILVNNWKYLTMPVLINFRFVPPMLRVLVANIIGFCWIVFLSAKRR 177 yellow fever mosquito
CCA69728     141 iggaRSADAIQATVMRGFLPMLKILWLSSPTATLFAQSFLPPELWVPFFNVVSLVIGTFFSVKvk 205 Piriformospora indica DSM 11827
GAA97938     132 INGASSPDAVLRFVKVAFLPLMRISWVVSPLCLVIAQRFLPPETWVPFFNAVSFVLGCFFNAQAK 196 Mixia osmundae IAM 14324
XP_007312796 136 INGAKSLQEVIRTVKGGFFSVIRITWLISPISMTIAQRFVPVELWVPFFNLIQFTLGTYFNIRvk 200 Serpula lacrymans var. lacryma...
XP_007325020 136 ingatSADEVLKTVKGGFLAVIRVTWIISPVVTVIAQKYIPIELWVPFFNSVQFFIGTYFNvrvk 200 Agaricus bisporus var. burnett...
XP_003037241 135 INGAKTVDDVLKTVKTGFFSVIRITWVVSPLSLSIAQGFIPVELWVLFFNAVQFVLGTFFNMhmk 199 Schizophyllum commune H4-8
EMD42168     138 INGARTAKDVVRTVKGGFVRVLRVTIMTQPVVIVFAQRFLAPELWVPFFNLVQFAVGTYTNVKLk 202 Ceriporiopsis subvermispora B
EPT03908     136 ingARSVDEVTKTVKAGFMSVLRATWMTLPLTIVIAQRYLAPELWVPFMNLVQFVTGTYFNTKLK 200 Fomitopsis pinicola FP-58527 SS1
EMT72407     124 iAGARTTEQARAAVRAGLVPMTKAMCAMHPVLITIATLFVPKEAWAPFFSLVGFCLGTFFNTMAK 188 Fusarium oxysporum f. sp. cube...
XP_003326110 141 ieglKSRKEIFFFWKKTIGILTKMSIILGTFSTIIANRFLSKELWVPFFNLVGFVLGTYVNFLNK 205 Puccinia graminis f. sp. triti...
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