Primary Identifier | IPR028236 | Type | Family |
Short Name | CPLANE1 |
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 [, ]. |