HPDL
Function
May have dioxygenase activity.
Involvement in disease
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.
None
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the 4HPPD family.
Cellular localization
- Mitochondrion
Alternative names
GLOXD1, HPDL, 4-hydroxyphenylpyruvate dioxygenase-like protein, HPD-like protein, Glyoxalase domain-containing protein 1