Symbol HSN2 HUGO 23152 RefSeq NM_213655 | Entrez 378465 OMIM 608620 UniProt Q6IFS5 | |
Hereditary sensory neuropathy, type II also known as HSN2 is a protein which in humans in encoded by the HSN2. It is a single-exon ORF, and a nervous system-specific exon of the WNK1 gene. HSN2 is as an alternatively spliced exon of WNK1 and this selectively occurs in nervous tissues, resulting in WNK1/HSN2 nervous system isoforms.
Contents
Function
The WNK1/HSN2 isoforms are expressed in the sensory parts of the peripheral nervous system and central nervous system which are associated with the transmission of sensory and nociceptive signals. These parts include satellite cells, Schwann cells, and sensory neurons. The novel protein product of the isoform is more plentiful in sensory neurons than motor neurons. 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 cells.
Clinical significance
Mutations in the HSN2 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.