SPG48 Rabbit pAb
- 产品详情
- 实验流程
Application
| IHC-P, IHC-F, IF |
|---|---|
| Primary Accession | O43299 |
| Other Accession | O43299 |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 88605 Da |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human SPG48 |
| Epitope Specificity | 288-370/807 |
| Isotype | IgG |
| Purity | affinity purified by Protein A |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| SUBUNIT | Probably part of the adapter protein complex 5 (AP-5) atetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts withZFYVE26 and SPG11. |
| DISEASE | Defects in AP5Z1 are the cause of spastic paraplegiaautosomal recessive type 48 (SPG48) [MIM:613647]. A form of spasticparaplegia, a neurodegenerative disorder characterized by a slow,gradual, progressive weakness and spasticity of the lower limbs.Rate of progression and the severity of symptoms are quitevariable. Initial symptoms may include difficulty with balance,weakness and stiffness in the legs, muscle spasms, and dragging thetoes when walking. In some forms of the disorder, bladder symptoms(such as incontinence) may appear, or the weakness and stiffnessmay spread to other parts of the body. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | Chromosome 7 is about 158 milllion bases long, encodes over 1000 genes and makes up about 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. KIAA0415 is a 807 amino acid protein that exists as three alternatively spliced isoforms. The KIAA0415 gene product has been provisionally designated KIAA0415 pending further characterization. |
| Gene ID | 9907 |
|---|---|
| Other Names | KIAA0415; SPG48; zeta; C330006K01Rik; AP5Z1_HUMAN; AP5Z1; Adaptor-related protein complex 5 zeta subunit (Zeta5); AP5Z1_MOUSE; adaptor related protein complex 5 subunit zeta 1; adaptor-related protein complex 5, zeta 1 subunit; adaptor related protein complex 5 zeta 1 subunit |
| Dilution | IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500 |
| 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 | AP5Z1 |
|---|---|
| Synonyms | KIAA0415, SPG48 |
| Function | As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair. |
| Cellular Location | Cytoplasm. Nucleus. Note=By SDS-PAGE, 2 isoforms have been observed, the shorter seems to be predominantly nuclear and the longer is mostly cytoplasmic. |
Research Areas
Application Protocols
Provided below are standard protocols that you may find useful for product applications.
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