MPV17 mitochondrial inner membrane protein MPV17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MPV17provided by HGNC
Official Full Name: mitochondrial inner membrane protein MPV17provided by HGNC
Primary source: HGNC:HGNC:7224
See related: Ensembl:ENSG00000115204 MIM:137960; AllianceGenome:HGNC:7224
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SYM1; CMT2EE; MTDPS6
Summary: 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]
Expression: Ubiquitous expression in adrenal (RPKM 8.6), thyroid (RPKM 7.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (27309492..27323097, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (27351915..27365520, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (27532360..27545964, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.
Title: MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.
[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene].
Title: [Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene].
Comprehensive Analysis on the Specific Role and Function of Mitochondrial Inner Membrane Protein MPV17 in Liver Hepatocellular Carcinoma.
Title: Comprehensive Analysis on the Specific Role and Function of Mitochondrial Inner Membrane Protein MPV17 in Liver Hepatocellular Carcinoma.
Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.
Title: Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.
NMR Structural and Biophysical Analysis of the Disease-Linked Inner Mitochondrial Membrane Protein MPV17.
Title: NMR Structural and Biophysical Analysis of the Disease-Linked Inner Mitochondrial Membrane Protein MPV17.
this study demonstrates that MPV17 does not control neither cell proliferation nor mtDNA content in cancer cells.
Title: MPV17 does not control cancer cell proliferation.
This report provides further evidence that MPV17 mutations should be considered in patients with pure, non-syndromic axonal neuropathy.
Title: MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
Exome sequencing identified homozygosity for a c.106C>T nonsense variant in exon 3 of the human MPV17 gene in 2 unrelated index patients. mRNA analysis revealed transcripts both with and without exon 3, indicating both reduced splice efficiency and premature termination as mechanisms for disease.
Title: Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.
Depressed MPV17 expression reduced mitochondrial folate levels by 43% and increased uracil levels, a marker of impaired dTMP synthesis, in mtDNA by 3-fold.
Title: The mitochondrial inner membrane protein MPV17 prevents uracil accumulation in mitochondrial DNA.
The authors describe an 11 year old girl, born to consanguineous parents, who presented with rapidly progressive MPV17 hepatocerebral mitochondrial DNA depletion syndrome. Genetic analysis of the patient revealed a homozygous pathogenic mutation c.121C>T (p.R41W) in the MPV17 gene.
Title: MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease, axonal, type 2EE MedGen: C5193076 OMIM: 618400 GeneReviews: Not available	Compare labs
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MedGen: C1850406 OMIM: 256810 GeneReviews: MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect, Mitochondrial DNA Maintenance Defects Overview	Compare labs

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_16687-16688:1017861800:1 (e-PCR)
- UniSTS:268073

G19419 (e-PCR)
- UniSTS:46666

D1S1425 (e-PCR)
- UniSTS:149621

STS-X76538 (e-PCR)
- UniSTS:8310

RH70909 (e-PCR)
- UniSTS:3196

WI-18702 (e-PCR)
- UniSTS:76794

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables channel activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to reactive oxygen species	ISS Inferred from Sequence or Structural Similarity more info
involved_in glomerular basement membrane development	ISS Inferred from Sequence or Structural Similarity more info
involved_in homeostatic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial genome maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial DNA metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitochondrial DNA metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of reactive oxygen species metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal membrane	TAS Traceable Author Statement more info
NOT located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: protein Mpv17

Names: MPV17, mitochondrial inner membrane protein; MpV17 mitochondrial inner membrane protein; Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.