TECPR2
Function
Probably plays a role as positive regulator of autophagy.
Involvement in disease
Neuropathy, hereditary sensory and autonomic, 9, with developmental delay
HSAN9
A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN9 is characterized by global developmental delay and intellectual disability, axial and appendicular hypotonia, dysarthria, and an abnormal gait that is often described as ataxic. Other features may include peripheral neuropathy, hyporeflexia, and autonomic dysfunction. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the WD repeat KIAA0329 family.
Tissue Specificity
Detected in skin fibroblast (at protein level).
Alternative names
KIAA0297, KIAA0329, TECPR2, Tectonin beta-propeller repeat-containing protein 2, WD repeat-containing protein KIAA0329/KIAA0297