Immunogen
The antiserum was produced against synthesized peptide derived from human SH3TC2. AA range:390-430
Specificity
SH3TC2 Polyclonal Antibody detects endogenous levels of SH3TC2 protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
IHC: 1/100 - 1/300. ELISA: 1/40000.. IF 1:50-200
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
disease:Defects in SH3TC2 are the cause of Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596]. 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,
Protein name
SH3 domain and tetratricopeptide repeat-containing protein 2
Other name
SH3TC2; KIAA1985; PP12494; SH3 domain and tetratricopeptide repeat-containing protein 2
Human protein sequence Database
Q8TF17
Mouse protein sequence database
Q80VA5
Rat protein sequence database
Cellular localization
plasma membrane,cytoplasmic vesicle,recycling endosome,
Tissue expression
Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and sciatic nerve. Weakly expressed in striated muscle.
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