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GENE - TERM ANNOTATION REPORT

RGD ID: 18935581
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Tex12
Name: testis expressed 12
Acc ID: DOID:0090106
Term: BH4-deficient hyperphenylalaninemia A
Definition: A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency "DO" "DO", https://www.omim.org/entry/261640 "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)
Tex12 ISOTEX12 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia APMID:19830588 PMID:20059486 PMID:25741868 PMID:28492532 PMID:31332730 PMID:32651154 PMID:33234470 PMID:33822819 PMID:7563095
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