MPDZ

multiple PDZ domain crumbs cell polarity complex component

Ensembl:
ENSG00000107186
UniProt:
O75970
OMIM:
603785
Synonyms:
MUPP1

Cilia effects upon perturbation of MPDZ

Ciliogenesis screen results (3 screens)

  • 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

Phenotypes

Mouse phenotype:
decreased startle reflex, decreased grip strength, improved glucose tolerance, increased circulating potassium level
Mouse ciliopathy phenotype:
abnormal auditory brainstem response, abnormal reti blood vessel morphology, abnormal reti morphology, increased heart weight, abnormal reti vasculature morphology
Human ciliopathy phenotype:
congenital hydrocephalus; hydrocephalus, nonsyndromic, autosomal recessive 2

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly

Function

MPDZ has localized in basal body.