ALPK1

alpha kinase 1

Ensembl:
ENSG00000073331
UniProt:
Q96QP1
OMIM:
607347
Synonyms:
FLJ22670, KIAA1527, LAK

Cilia effects upon perturbation of ALPK1

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

Subcellular localization

basal body, cilia

Functional category

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

Function

Missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.