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GENE - TERM ANNOTATION REPORT

RGD ID: 11680974
Species: Pan paniscus
RGD Object: Gene
Symbol: SPPL3
Name: signal peptide peptidase like 3
Acc ID: DOID:0080154
Term: short chain acyl-CoA dehydrogenase deficiency
Definition: A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids. (DO)
Definition Source(s): http://rarediseases.org/rare-diseases/short-chain-acyl-coa-dehydrogenase-deficiency-scad/ "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)
SPPL3 ISOSPPL3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenasePMID:12736383 PMID:18523805 PMID:28492532
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