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GENE - TERM ANNOTATION REPORT

RGD ID: 14179146
Species: Sus scrofa
RGD Object: Gene
Symbol: VPS13A
Name: vacuolar protein sorting 13 homolog A
Acc ID: DOID:0080075
Term: Neu-Laxova syndrome 2
Definition: A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine. (DO)
Definition Source(s): https://www.omim.org/entry/616038 "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)
VPS13A ISOVPS13A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neu-Laxova syndrome 2PMID:17436247 PMID:25152457 PMID:28492532
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