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SPG48 Rabbit pAb

     
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Product Information
Application
  • Applications Legend:
  • E=ELISA
  • WB=Western Blotting
  • IHC=Immunohistochemistry
  • IHC-P=Immunohistochemistry (Paraffin)
  • IP=Immunoprecipitation
  • IF=Immunofluorescence
  • IC=Immunochemistry
  • ICC=Immunocytochemistry
  • FC=Flow Cytometry
  • DB=Dot Blot
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.
Additional Information
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
StorageStore 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.

Protein Information
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
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