rs587777450
This is a variant in the PIEZO2 gene that changes a arginine to an histidine.
▶ClinVar annotation
Arthrogryposis multiplex congenita (AMC); Arthrogryposis, distal, with impaired proprioception and touch (DAIPT); Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Fetal akinesia deformation sequence 1 (FADS1); Gordon syndrome (DA3); Inborn genetic diseases
View on ClinVar →About PIEZO2
The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
View all PIEZO2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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