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TMEM216 cdna clone

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Catalog # MBS1266744
Unit / Price
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  0.01 mg Plasmid + 0.2 mL Glycerol-Stock  /  $165 +1 FREE 8GB USB
TMEM216 cdna clone
Product Name

TMEM216, cDNA Clone

Full Product Name

TMEM216 cDNA Clone

Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
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
OMIM
603194
Vector
pENTR223.1 or pUC
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 9001:2008 Certified Laboratory.
Other Notes
Small volumes of TMEM216 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for TMEM216. It may not necessarily be applicable to this product.
NCBI GI #
NCBI GeneID
NCBI Accession #
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
16,820 Da
NCBI Official Full Name
Homo sapiens transmembrane protein 216, mRNA
NCBI Official Synonym Full Names
transmembrane protein 216
NCBI Official Symbol
TMEM216  [Similar Products]
NCBI Official Synonym Symbols
HSPC244
  [Similar Products]
NCBI Protein Information
transmembrane protein 216
UniProt Protein Name
Transmembrane protein 216
Protein Family
UniProt Gene Name
TMEM216  [Similar Products]
UniProt Entry Name
TM216_HUMAN
NCBI Summary for TMEM216
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 Comments for TMEM216
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
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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