NP_078853.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
144,023 Da
NCBI Official Full Name
SH3 domain and tetratricopeptide repeat-containing protein 2
NCBI Official Synonym Full Names
SH3 domain and tetratricopeptide repeats 2
NCBI Official Synonym Symbols
NCBI Protein Information
SH3 domain and tetratricopeptide repeat-containing protein 2
UniProt Protein Name
SH3 domain and tetratricopeptide repeat-containing protein 2
UniProt Synonym Gene Names
UniProt Entry Name
S3TC2_HUMAN
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]
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
Research Articles on SH3TC2
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Products associated with anti-SH3TC2 antibody
Diseases associated with anti-SH3TC2 antibody
Organs/Tissues associated with anti-SH3TC2 antibody
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