TMEM216 cdna clone
TMEM216 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
Uniprot Description
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.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 11q13.1
Cellular Component: cilium; cytosol
Biological Process: cilium biogenesis
Disease: Joubert Syndrome 2; Meckel Syndrome, Type 2
Research Articles on TMEM216
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Product Notes
The TMEM216 tmem216 (Catalog #AAA1266744) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgctcctcc tttatcttgg aattgaagta attcgcctgt tttttggtac aaagggaaac ctctgccagc gaaagatgcc actcagtatt agcgtggcct tgaccttccc atctgccatg atggcctcct attacctgct gctgcagacc tacgtactcc gcctggaagc catcatgaat ggcatcttgc tcttcttctg tggctcagag cttttacttg aggtgctcac cttggctgct ttctccagta tggacacgat ttga. It is sometimes possible for the material contained within the vial of "TMEM216, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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