Family

Joubert syndrome-associated protein (IPR028236)

Short name: JBTS17

Overlapping homologous superfamilies

None.

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