SH3TC2 Rabbit pAb
SH3TC2 Rabbit pAb
- 产品详情
- 实验流程
- 背景知识
Application
| WB, IHC-P, IHC-F, IF |
|---|---|
| Primary Accession | Q8TF17 |
| Predicted | Rat, Pig, Human, Mouse, Rabbit, Horse |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 144777 Da |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human SH3TC2 |
| Epitope Specificity | 851-950/1288 |
| Isotype | IgG |
| Purity | affinity purified by Protein A |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| 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, early-onset scoliosis and a distinct Schwann cell pathology. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | SH3TC2 (SH3 domain and tetratricopeptide repeats 2) is a 1,288 amino acid protein that contains one SH3 domain and eight TPR repeats. The SH3TC2 gene encodes a protein expressed in Schwann cells of peripheral nerves, and localized to the plasma membrane and to the perinuclear endocytic recycling compartment, suggesting a possible function in myelination and/or in regions of axoglial interactions. The SH3TC2 protein is expressed in adult heart, testis, spinal cord, and brain as well as in fetal brain and liver. Mild mononeuropathy of the median nerve (MNMN) is caused by heterozygous mutation in the SH3TC2 gene. Also, Charcot-Marie-Tooth disease type 4C (CMT4C) is a more severe neuropathy caused by homozygous or compound heterozygous mutation in the SH3TC2 gene. Existing as four alternatively spliced isoforms and containing 18 exons, the SH3TC2 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 5q32. |
| Gene ID | 79628 |
|---|---|
| Other Names | SH3 domain and tetratricopeptide repeat-containing protein 2, SH3TC2 (HGNC:29427) |
| Dilution | WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,ICC/IF=1:100-500,IF=1:100-500,ELISA=1:5000-10000 |
| Storage | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
For Research Use Only. Not For Use In Diagnostic Procedures.
| Name | SH3TC2 (HGNC:29427) |
|---|---|
| Function | Is involved in nerve myelination and is required for the integrity of nodes of Ranvier (By similarity). It probably functions as a Rab effector in the regulation of endocytic recycling (PubMed:20028792, PubMed:20826437). |
| Cellular Location | Cell membrane {ECO:0000250|UniProtKB:Q80VA5}. Recycling endosome |
| Tissue Location | Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and sciatic nerve. Weakly expressed in striated muscle. |
Research Areas
Application Protocols
Provided below are standard protocols that you may find useful for product applications.
BACKGROUND
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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