PMM2

phosphomannomutase 2

Ensembl:
ENSG00000140650
UniProt:
O15305
OMIM:
601785
Synonyms:
CDG1, CDG1A, CDGS, PMI, PMI1

Cilia effects upon perturbation of PMM2

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.38) 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:
preweaning lethality, complete penetrance, embryonic lethality prior to organogenesis, increased blood urea nitrogen level, embryonic lethality prior to tooth bud stage, enlarged lymph nodes

Ciliopathy associations

  • Polycystic Kidney Disease

Subcellular localization

cilia, cytosol

Functional category

  • Ciliary assembly/disassembly

Function

PMM2 has localized in primary cilia.