From Wikipedia, the free encyclopedia
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.
[1]
[2]
It is a transcript variant of the
WNK1
gene that is selectively expressed in nervous system tissues, and during development. Mutations in this exon of the
WNK1
gene have been identified as causative in genetic neuropathy syndromes, and in inherited pain insensitivity.
Function
[
edit
]
The HSN2-containing
WNK1
isoforms are expressed in the sensory transducing neurons of the
peripheral nervous system
, as well as in the
central nervous system
. The sensory afferent neurons expressing the HSN2 splice variant of
WNK1
are associated with the transmission of sensory and
nociceptive
signals. The novel protein product of the isoform is more plentiful in sensory neurons than
motor neurons
.
[3]
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
[
edit
]
Mutations
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.
[3]
References
[
edit
]
- ^
"Entrez Gene: Hereditary sensory neuropathy, type II"
.
- ^
Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W, Goldberg YP, Younghusband HB, Hayden MR, Sherrington R, Rouleau GA, Samuels ME, Study of Canadian Genetic Isolates (May 2004).
"Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates"
.
American Journal of Human Genetics
.
74
(5): 1064?73.
doi
:
10.1086/420795
.
PMC
1181970
.
PMID
15060842
.
- ^
a
b
Shekarabi M, Girard N, Riviere JB, et al. (July 2008).
"Mutations in the nervous system?specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II"
.
J Clin Invest
.
118
(7): 2496?2505.
doi
:
10.1172/JCI34088
.
PMC
2398735
.
PMID
18521183
.
This article incorporates text from the
United States National Library of Medicine
, which is in the
public domain
.