Family

LisH domain-containing protein ARMC9 (IPR040369)

Short name: ARMC9

Overlapping homologous superfamilies

None.

Family relationships

None.

Description

Proteins in this family are mostly from animals. The only characterized protein is LisH domain-containing protein ARMC9, which is localized to the basal body of a cilium and is upregulated during ciliogenesis. Mutations in the ARMC9 gene cause Joubert Syndrome, a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment [PMID: 28625504].

GO terms

Biological Process

GO:0060271 cilium assembly

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0036064 ciliary basal body

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER