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Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters.
Gene References into Functions
GNAL mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia. PMID: 27093447
GNAL mutations are not a common cause of dystonia in the Brazilian population PMID: 26810727
We report a novel GNAL mutation in Italian family with adult-onset, dominantly-inherited dystonia PMID: 26725140
Mutations in the GNAL gene may not be a common cause of isolated dystonia in the Chinese population. PMID: 26365774
This study demonstrated that Mutations in GNAL may cause Dystonia. PMID: 25847575
identified two novel GNAL mutations: one heterozygous missense variant in GNAL exon 4, c.289A>G. PMID: 25382112
The findings of this study further support GNAL as causative gene in adult-onset isolated dystonia. PMID: 24408567
This study identified a novel likely disease-causing GNAL mutation in a Serbian patient with cervical dystonia and a classical DYT25 phenotype. PMID: 24729450
Primary dystonia in the Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A GAG deletion. PMID: 24500857
GNAL variants seem to be a rare cause of primary torsion dystonia in our mainly sporadic German sample. PMID: 24151159
Our own data suggest that GNAL mutations do not represent a common cause of dystonia in the U.K. population. PMID: 24222099
The GNAL dystonia gene is central for striatal responses to dopamine (DA) and is a component of a molecular pathway already implicated in DOPA-responsive dystonia (DRD). PMID: 24144882
GNAL mutations potentially increase ethnic susceptibility to movement disorders induced by dopamine antagonists. PMID: 24535567
Mutations in GNAL gene can cause adult-onset primary dystonia in Chinese patients PMID: 23759320
Familial adult-onset primary dystonia can result from mutations in GNAL. PMID: 23449625
these findings provide important clues to understanding physiological functions of XLGalpha(olf). PMID: 22120635
investigation of whether polymorphisms in the alpha subunit of the Golf gene (A-->G in intron 3, and T-->G in intron 10) are associated with major depression; additionally tested for a parent-of-origin effect in separated gender groups PMID: 11901355
promotes cellular invasion, survival and neuroendocrine differentiation in colon, kidney and prostate epithelial cells PMID: 12037684
No support for the hypothesis that the olfactory G-protein gene is a major susceptibility factor for bipolar disorders. PMID: 12782961
identified a transcriptional variant of the GNAL gene in chromosome 18p11.2 in susceptibility to bipolar disorder and schizophrenia PMID: 16044173
Galpha(olf) variant XLGalpha(olf) interacts with the human adenosine A2A receptor PMID: 16818375
We hypothesized that the G(s)-like subunit Galpha(olf), expressed in D1-rich areas of the brain, contributes to the genetic susceptibility of ADHD. We examined the inheritance pattern of 12 GNAL polymorphisms in 258 nuclear families. PMID: 17166517
This study provides important clues toward understanding physiological functions of XLGalpha(olf). PMID: 19245791
Involvement in disease
Dystonia 25 (DYT25)
G-alpha family, G(s) subfamily
Detected in olfactory neuroepithelium, brain, testis, and to a lower extent in retina, lung alveoli, spleen. Trace amounts where seen in kidney, adrenal gland and liver. Found to be expressed in all the insulinomas examined.