KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

doi:10.1016/j.ajhg.2011.06.013

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Article

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

American journal of human genetics - 12 Aug 2011

Rivière Jean-Baptiste, Ramalingam Siriram, Lavastre Valérie, Shekarabi Masoud, Holbert Sébastien, Lafontaine Julie, Srour Myriam, Merner Nancy, Rochefort Daniel, Hince Pascale, Gaudet Rébecca, Mes-Masson Anne-Marie, Baets Jonathan, Houlden Henry, Brais Bernard, Nicholson Garth A, Van Esch Hilde, Nafissi Shahriar, De Jonghe Peter, Reilly Mary M, Timmerman Vincent, Dion Patrick A, Rouleau Guy A

Abstract excerpt

Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare autosomal-recessive disorder characterized by peripheral nerve degeneration resulting in a severe distal sensory loss. Although mutations in FAM134B and the HSN2 exon of WNK1 were associated with HSANII, the etiology of a substantial number of cases remains unexplained. In addition, the functions of WNK1/HSN2 and FAM134B and their role in the...

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Identifiers

PMID: 21820098
DOI: 10.1016/j.ajhg.2011.06.013
PMCID: PMC3155159

Genes

WNK1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.PMID 21820098Read ↗

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