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Protein Domain : Ciliogenesis and planar polarity effector 1

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 [, ].

0 Child Features

0 Parent Features

2 Protein Domain Regions