Family

Joubert syndrome-associated protein (IPR028236)

Short name: JBTS17

Family relationships

None.

Description

This family of proteins, which is found in eukaryotes, has no known function. However, mutations in the gene lead to Joubert's Syndrome, a ciliopathy characterised by a distinctive mid-hindbrain malformation, developmental delay with hypotonia, ocular-motor apraxia, and breathing abnormalities [PMID: 22425360, PMID: 25877302].

Contributing signatures

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