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Rabbit Anti-SPG11/FITC Conjugated antibody
background:
The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Subunit:
Interacts with AP5Z1, AP5B1, AP5S1 and ZFYVE26.
Subcellular Location:
Membrane. Cytoplasm > cytosol. Nucleus. Mainly cytoplasmic.
Tissue Specificity:
Expressed in all structures of brain, with a high expression in cerebellum.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
Defects in SPG11 are the cause of spastic paraplegia autosomal recessive type 11 (SPG11) [MIM:60472]. Spastic paraplegia is 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 quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Database links:
Entrez Gene: 80208 Human
Omim: 610844 Human
SwissProt: Q96JI7 Human
Unigene: 656271 Human
Unigene: 683876 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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