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GENE - TERM ANNOTATION REPORT

RGD ID: 727897
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pmpca
Name: peptidase, mitochondrial processing subunit alpha
Acc ID: DOID:0080061
Term: autosomal recessive spinocerebellar ataxia 2
Definition: An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia "DO" "DO", https://www.omim.org/entry/606002 "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)
Pmpca ISOPMPCA (Homo sapiens)7240710OMIM  
Pmpca ISOPMPCA (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pmpca ISOPMPCA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 | ClinVar Annotator: match by term: CPD IIIPMID:10528257 PMID:17576681 PMID:25741868 PMID:25808372 PMID:26657514 PMID:28492532 PMID:32369273 PMID:9536098
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