MYO5A Rabbit pAb
MYO5A Rabbit pAb
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- 背景知识
Application
| IHC-P, IHC-F, IF |
|---|---|
| Primary Accession | Q9Y4I1 |
| Predicted | Rat, Pig, Dog, Human, Mouse, Rabbit, Chicken, Horse, Sheep |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 215405 Da |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human MYO5A |
| Epitope Specificity | 1301-1400/1855 |
| 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 MYO5A are a cause of Griscelli syndrome type 1 (GS1) [MIM:214450]; also known as Griscelli syndrome with primary neurologic impairment. Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mental retardation, without apparent immune abnormalities. Defects in MYO5A are a cause of Griscelli syndrome type 3 (GS3) [MIM:609227]. GS3 is characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes, without other clinical manifestations. Defects in MYO5A are a cause of Elejalde syndrome (ELEJAS) [MIM:256710]; also known as neuroectodermal melanolysosomal disease. Elejalde syndrome is an autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type 1. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008] |
| Gene ID | 4644 |
|---|---|
| Other Names | Unconventional myosin-Va, Dilute myosin heavy chain, non-muscle, Myosin heavy chain 12, Myosin-12, Myoxin, MYO5A, MYH12 |
| Dilution | 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 | MYO5A |
|---|---|
| Synonyms | MYH12 |
| Function | Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Can hydrolyze ATP in the presence of actin, which is essential for its function as a motor protein (PubMed:10448864). Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane (By similarity). May also be required for some polarization process involved in dendrite formation (By similarity). |
| Tissue Location | Detected in melanocytes. |
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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