Expressed in spermatid. Used to study Parkinson's disease. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 15 and oculopharyngodistal myopathy 2. Human GIPC1 enables signaling receptor binding activity. Is predicted to encode a protein with the following domains: PDZ domain-containing protein GIPC1/2/3; PDZ superfamily; and PDZ domain. Is an ortholog of human GIPC1 (GIPC PDZ domain containing family member 1) and GIPC3 (GIPC PDZ domain containing family member 3).
Inferred by orthology to human genes with DO annotation (HGNC:1226)
Disease_relevance
In an elegans model of Parkinson''s disease, where human alpha-synuclein was overexpressed, RNA interference studies showed that the elegans gipc-1/GIPC (GAIP-interacting protein, a conserved cellular scaffold-type protein), significantly protected against age- and dose-dependent degeneration in the dopamine neurons of transgenic worms; such models allow the identification of human modifier proteins of alpha-synuclein dependent misfolding and neurodegeneration, these proteins may also be new potential targets for therapeutic intervention.
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.