CFAP410

cilia and flagella associated protein 410

Ensembl:
ENSG00000160226
UniProt:
O43822
OMIM:
603191
Synonyms:
A2, C21ORF2, LRRC76, YF5

Cilia effects upon perturbation of CFAP410

Cilia number / % ciliated:
Decreased cilia number

Phenotypes

Human ciliopathy phenotype:
cone-rod dystrophy

Ciliopathy associations

  • Cone-Rod Dystrophy
  • Retinal Dystrophy/Degeneration
  • Skeletal Ciliopathy
  • Spondylometaphyseal Dysplasia

Subcellular localization

basal body

Functional category

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

Function

C21orf2. It may play roles in cilia formation and/or mainte nce (21289087). Mutated in both syndromic and non-syndromic reti l degeneration. It is part of a of a ciliary functio l complex that includes NEK1, C21orf2 and reti l ciliopathy protein SPATA7, where C21orf2 might represent a substrate of NEK1

Model organism evidence

Mus musculus (1 reference)

Mutations in CFAP410, a basal body protein known to be required for the formation of primary cilia, have been identified as risk modifiers in amyotrophic lateral sclerosis (ALS), a devastating late onset neurodegenerative disorder with poor prognosis.

PMIDs: 40933646