- References (2)
- Inventor Info
|Applications||ELISA IHC WB|
|Antigen/Gene or Protein Targets||Cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1)|
Defects in CYP7B1 are the cause of spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]. 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.
Defects in CYP7B1 are the cause of congenital bile acid synthesis defect type 3 (CBAS3) [MIM:613812]. Clinical features include severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable.
|Immunogen||Ovalbumin-conjugated synthetic peptide IQYPDSDVL (C-terminal sequence)|
|Positive Control||IHC: formalin-fixed, paraffin-embedded human liver sections WB: pooled human liver microsomes|
|Notes||This antibody was applied in a poster presented at the 2015 NCRI conference: http://abstracts.ncri.org.uk/?s=oxysterol&year_published=2015|
|Research Area||Cancer, Cardiovascular, Cell Signaling & Signal Transduction, Metabolism, Neurobiology|
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