Hereditary sensory neuropathy, type II also known as HSN2 is a region of a parent protein which in humans is encoded by the WNK1 gene.
Function
The HSN2-containing
WNK1 Protein isoform are expressed in the sensory transducing neurons both in the peripheral nervous system and the central nervous system. The sensory afferent neurons expressing the HSN2 splice variant of
WNK1 are associated with the transmission of sensory and
Nociception signals. The novel protein product of the isoform is more plentiful in sensory neurons than
.
It is proposed that this gene product may play a role in the development and/or maintenance of peripheral sensory neurons or their supporting
Schwann cell.
Clinical significance
in the HSN2-containing splice variants of the
WNK1 gene are associated with congenital sensory neuropathy (HSAN Type II), an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons.
