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GENE - TERM ANNOTATION REPORT

RGD ID: 1310512
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mpv17
Name: mitochondrial inner membrane protein MPV17
Acc ID: DOID:0080125
Term: mitochondrial DNA depletion syndrome 6
Definition: A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO" "DO", https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29282788 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/30298599 "DO" "DO", https://www.omim.org/entry/256810 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Mpv17 ISOMPV17 (Homo sapiens)7240710OMIM  
Mpv17 ISOMPV17 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Mpv17 ISOMPV17 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)PMID:16199547 PMID:16582910 PMID:16909392 PMID:17694548 PMID:18261905 PMID:18695062 PMID:19012992 PMID:19520594 PMID:20074988 PMID:22508010 PMID:22964873 PMID:23714749 PMID:23829229 PMID:24190800 PMID:25016221 PMID:25129007 PMID:25741868 PMID:25741916 PMID:25861990 PMID:26437932 PMID:26467025 PMID:26741492 PMID:27536553 PMID:27848944 PMID:28207748 PMID:28209105 PMID:28492532 PMID:28673863 PMID:28776642 PMID:29282788 PMID:29318572 PMID:30273399 PMID:30298599 PMID:30782936 PMID:30833296 PMID:31319225 PMID:31673878 PMID:32703289 PMID:33258288 PMID:33486010 PMID:34476298 PMID:34979697
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