GENE REFERENCE / HGNC:4393

GNAT1

G protein subunit alpha transducin 1

protein-coding gene3p21.31Gene information

What does this gene do?

The GNAT1 gene provides instructions for making a protein called alpha (α)-transducin. This protein is one part (the alpha subunit) of a protein complex called transducin. There are several versions of transducin made up of different subunits. Each version is found in a particular cell type in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in transmitting visual signals from the eye to the brain.

The transducin complex that contains α-transducin is found only in specialized light receptor cells in the retina called rods. Rods are responsible for vision in low-light conditions. When light enters the eye, a rod cell protein called rhodopsin is turned on (activated), which then activates α-transducin. Once activated, α-transducin breaks away from the transducin complex in order to activate another protein called cGMP-PDE, which triggers a series of chemical reactions that create electrical signals. These signals are transmitted from rod cells to the brain, where they are interpreted as vision.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2013-11.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
inherited retinal dystrophyMONDO:0019118 · Evaluated 2024-11-07	Autosomal dominant	DefinitiveRetina Gene Curation Expert Panel
inherited retinal dystrophyMONDO:0019118 · Evaluated 2024-11-07	Autosomal recessive	DefinitiveRetina Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 442
Submissions for variants in or overlapping this gene: 604
Submissions explicitly reporting this gene: 553
Alleles reported pathogenic / likely pathogenic: 29
VariationIDs with uncertain significance: 228
VariationIDs with conflicting classifications: 8

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about GNAT1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 29 alleles in GNAT1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in GNAT1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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