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Protein Page:
TMEM216 (human)

Overview
TMEM216 Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Defects in TMEM216 are a cause of Joubert syndrome type 2 (JBTS2). JBTS2 is a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Defects in TMEM216 are the cause of Meckel syndrome type 2 (MKS2). It is a form of Meckel syndrome, an autosomal recessive disorder. It is 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. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 11q13.1
Cellular Component: cilium; cytoskeleton; cytosol; integral to membrane
Biological Process: cilium biogenesis
Disease: Joubert Syndrome 2; Meckel Syndrome, Type 2
Reference #:  Q9P0N5 (UniProtKB)
Alt. Names/Synonyms: HSPC244; JBTS2; MGC13379; TM216; TMEM216; Transmembrane protein 216
Gene Symbols: TMEM216
Molecular weight: 16,487 Da
Basal Isoelectric point: 9.39  Predict pI for various phosphorylation states
Select Structure to View Below

TMEM216

Protein Structure Not Found.


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