PDZD7

PDZ domain containing 7

Ensembl:
ENSG00000186862
UniProt:
Q9H5P4
OMIM:
612971
Synonyms:
BA108L7.8, DFNB57, FLJ23209, PDZK7

Cilia effects upon perturbation of PDZD7

Ciliogenesis screen results (1 screen)

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

Phenotypes

Human ciliopathy phenotype:
hearing loss, autosomal recessive 57; hearing loss, autosomal recessive

Ciliopathy associations

  • Usher Syndrome

Subcellular localization

basal body, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Reti l disease modifier in patients with digenic Usher syndrome. Homolog of whirlin (USH2D) and harmonin (USH1C). Part of the Usher protein complex (20440071). It positions and stabilises GPR98 (23055499).