Function
Iron-dependent dioxygenase that catalyzes the conversion of 4-hydroxyphenylpyruvate (4-HPPA) to 4-hydroxymandelate (4-HMA) in the mitochondria, one of the steps in the biosynthesis of coenzyme Q10 from tyrosine.
Biological Context
Subcellular Location: Mitochondrion
Disease Association: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) : An autosomal recessive neurodevelopmental disorder characterized by developmental delay manifesting in infancy, inability to walk independently, mild to severe intellectual disability, poor overall growth, progressive microcephaly, and axial hypotonia. Additional variable features include brainstem and cerebellar involvement, seizures, joint contractures, ocular disturbances, episodic respiratory failure, and facial dysmorphism. [The disease may be caused by variants affecting the gene represented in this entry] | Spastic paraplegia 83, autosomal recessive (SPG83) : A form of spastic paraplegia, 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. SPG83 is characterized by juvenile onset of progressive lower limb spasticity resulting in gait instability. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-371aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 46.8kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
