pfam09773: Meckelin (this model, PSSM-Id:286814 is obsolete and has been replaced by 462892)
Meckelin (Transmembrane protein 67)
Members of this family are thought to be related to the ciliary basal body. Defects result in Meckel syndrome type 3, an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Joubert syndrome type 6 is also a manifestation of certain mutations; it is an autosomal recessive congenital malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles. Individuals with Joubert syndrome have motor and behavioral abnormalities, including an inability to walk due to severe clumsiness and 'mirror' movements, and cognitive and behavioural disturbances.
Jiyao W et al.(2023). "The conserved domain database in 2023.",