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GENE - TERM ANNOTATION REPORT

RGD ID: 1314787
Species: Mus musculus
RGD Object: Gene
Symbol: Capza1
Name: capping actin protein of muscle Z-line subunit alpha 1
Acc ID: DOID:0110799
Term: hereditary spastic paraplegia 47
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21620353 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22290197 "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)
Capza1 ISOCAPZA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegia 47PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532
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