ACP5

acid phosphatase 5, tartrate resistant

Ensembl:
ENSG00000102575
UniProt:
P13686
Synonyms:
HPAP, TRACP, TRAP

Cilia effects upon perturbation of ACP5

Ciliogenesis screen results (4 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

Ciliopathy associations

  • Spondylometaphyseal Dysplasia

Subcellular localization

cilia associated gene, cytosol, lysosomes

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the ACP5 gene cause Spondylometaphyseal Dysplasia (PMID: 26854080, 21217752).