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GNAL

From SNPedia

is agene
is mentioned by
Full nameG protein subunit alpha L
EntrezGene2774
PheGenI2774
VariationViewer2774
ClinVarGNAL
dbSNP2774
SADR2774
HugeNav2774
wikipediaGNAL
googleGNAL
gopubmedGNAL
EVSGNAL
HEFalMpGNAL
MyGene2GNAL
23andMeGNAL
UniProtP38405
EnsemblENSG00000141404
OMIM139312
# SNPs8
 Max MagnitudeChromosome positionSummary
rs398122923011,824,933
rs398122924011,872,345
rs398122925011,824,987
rs398122926011,753,835
rs398122927011,864,577
rs398122928011,752,494
rs60220111,882,269
rs994729511,759,433

The GNAL gene on chromosome 18 encodes a stimulatory G-alpha subunit of the G protein receptor.

Heterozygous loss-of-function mutations in the GNAL gene are known to cause isolated dystonia. Patients with heterozygous GNAL mutations typically exhibit an adult-onset focal cervical, laryngeal, and/or segmental dystonia. Homozygous or compound heterozygous GNAL mutations are associated with familial childhood-onset generalized dystonia.[PMID 27222887OA-icon.png]