IMPDH1

inosine monophosphate dehydrogenase 1

Ensembl:
ENSG00000106348
UniProt:
P20839
OMIM:
146690
Synonyms:
LCA11, RP10, SWSS2608

Cilia effects upon perturbation of IMPDH1

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=2.60) PMID:20393562

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa; Leber congenital amaurosis

Ciliopathy associations

  • Leber Congenital Amaurosis
  • Retinal Dystrophy/Degeneration

Subcellular localization

cilia associated gene, cytosol, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Viral interactions

Function

Mutations in the IMPDH1 gene cause Retinitis Pigmentosa and Leber Congenital Amaurosis (PMID: 11875050, 16384941).