PDYN

prodynorphin

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000101327
UniProt:
P01213
OMIM:
131340
Synonyms:
ADCA, PENKB, SCA23

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.34) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal circulating iron level, thrombocytopenia
Human ciliopathy phenotype:
spinocerebellar ataxia type 23

Ciliopathy associations

  • Spinocerebellar Ataxia

References: PMID:33175256, PMID:21035104

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the PDYN gene cause Spinocerebellar Ataxia (PMID: 21035104).