GNAL

Chr 18p11.21

G protein subunit alpha L

MANE:: ENST00000334049.11

OMIM: 139312 ↗NCBI: 2774 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

GNAL · P38405

v62025-08-01

Predicted Aligned Error matrix for GNAL — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.1/ 100

Very high

381 residues

Confidence breakdown

Very high(≥ 90)85%
Confident(70–90)10%
Low(50–70)3%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset dystonia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Parkinson Disease and Complex Parkinsonism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

dystonia 25
0.73
Autosomal dominant focal dystonia, DYT25
0.58
Dystonia
0.55
dystonic disorder
0.53
Dysarthria
0.26
Limb dystonia
0.26
circadian rhythm sleep disorder
0.22
tooth disorder
0.22
Nasal polyposis
0.19
hereditary disease
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Guanine nucleotide-binding protein G(olf) subunit alpha

Guanine nucleotide-binding protein (G protein) involved as transducer in olfactory signal transduction controlled by G protein-coupled receptors (GPCRs) (By similarity). Contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (By similarity). Signaling by an activated GPCR promotes GDP release and GTP binding (By similarity). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal (By similarity). Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (By similarity). GNAL/G(olf) alpha specifically mediates olfactory signal transduction within the olfactory neuroepithelium and the basal ganglia following GPCRs activation (By similarity). Acts by promoting the specific activation of adenylyl cyclase ADCY3, resulting in increased levels of the signaling molecule cAMP (By similarity)