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SH3TC2 cdna clone

Scan QR to view Datasheet Catalog #    MBS1272074 SH3TC2 cdna clone
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 Product Name   

SH3TC2, cDNA Clone

 Also Known As   

SH3TC2 cDNA Clone

 Product Gene Name   

SH3TC2 cdna clone

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Molecular Biology Protocol    Molecular Biology Protocol
 Frequently Asked Questions    Frequently Asked Questions
 Sequence    Please Inquire
 OMIM    601596
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 Vector    Please Inquire
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 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of SH3TC2 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.
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NCBI/Uniprot data below describe general gene information for SH3TC2. It may not necessarily be applicable to this product.
 NCBI GI #    109731641
 NCBI GeneID    79628
 NCBI Accession #    BC113879 [Other Products]
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 UniProt Secondary Accession #    Q14CC0; Q14CF5; Q9H8I5; B3KWE5 [Other Products]
 UniProt Related Accession #    Q8TF17 [Other Products]
 Molecular Weight    144,023 Da
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 NCBI Official Full Name    Homo sapiens SH3 domain and tetratricopeptide repeats 2, mRNA
 NCBI Official Synonym Full Names    SH3 domain and tetratricopeptide repeats 2
 NCBI Official Symbol    SH3TC2 [Similar Products]
 NCBI Official Synonym Symbols   
[Similar Products]
 NCBI Protein Information    SH3 domain and tetratricopeptide repeat-containing protein 2
 UniProt Protein Name    SH3 domain and tetratricopeptide repeat-containing protein 2
 Protein Family    SH3 domain and tetratricopeptide repeat-containing protein
 UniProt Gene Name    SH3TC2 [Similar Products]
 UniProt Synonym Gene Names    KIAA1985 [Similar Products]
 UniProt Entry Name    S3TC2_HUMAN
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 NCBI Summary for SH3TC2    This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
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 UniProt Comments for SH3TC2    SH3TC2: Defects in SH3TC2 are the cause of Charcot-Marie-Tooth disease type 4C (CMT4C). CMT4C is a recessive form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention, autosomal recessive forms of demyelinating Charcot- Marie-Tooth disease are designated CMT4. CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology. Defects in SH3TC2 are the cause of mononeuropathy of the median nerve mild (MNMN). A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies. 4 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 5q32

Disease: Charcot-marie-tooth Disease, Type 4c
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 Research Articles on SH3TC2    1. A homozygous missense mutation c.1894G>A of SH3TC2 is associated with Charcot-Marie-Tooth disease type 4C.
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 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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Diseases associated with SH3TC2 cdna cloneOrgans/Tissues associated with SH3TC2 cdna clone
 Disease Name  Pubmed Publications
 Nervous System Diseases Antibodies  >27 publications with SH3TC2 and Nervous System Diseases
 Charcot-Marie-Tooth disease, Type 4C Antibodies  >2 publications with SH3TC2 and Charcot-Marie-Tooth disease, Type 4C
 Inflammation Antibodies  >1 publications with SH3TC2 and Inflammation
 Organ/Tissue Name  Pubmed Publications
 Muscle Antibodies  >6 publications with SH3TC2 and Muscle
 Brain Antibodies  >3 publications with SH3TC2 and Brain
 Uncharacterized Tissue Antibodies  >2 publications with SH3TC2 and Uncharacterized Tissue
 Spinal Cord Antibodies  >1 publications with SH3TC2 and Spinal Cord
 Blood Antibodies  >1 publications with SH3TC2 and Blood
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