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GENE - TERM ANNOTATION REPORT

RGD ID: 1309250
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc30a6
Name: solute carrier family 30 member 6
Acc ID: DOID:0110792
Term: hereditary spastic paraplegia 4
Definition: A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9302257 "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)
Slc30a6 ISOSLC30A6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegia 4PMID:25065914 PMID:25741868 PMID:28492532
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