GNAI3 - Guanine nucleotide-binding protein G(k) subunit alpha - human protein (Medical)
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GNAI3 »  Guanine nucleotide-binding protein G(k) subunit alpha
Protein also known as:  G(i) alpha-3.
Gene name:  GNAI3
Family name: G-alpha » G(i/o/t/z)
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 52 1

Displayed isoform: Iso 1



 show evidences
Auriculocondylar syndrome 1 (ARCND1) [MIM:602483]: An autosomal dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. The disease is caused by mutations affecting the gene represented in this entry.  
  • UniProtKB
According to Orphanet, this protein is involved in the following disease:
Auriculocondylar syndrome  137888  


Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]

Further external links

Organism-specific databases
CTD: 2773
MIM: 602483
PharmGKB: PA173
Polymorphism and mutation databases
BioMuta: GNAI3
DMDM: 120996
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.