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
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1 41 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
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.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Auriculocondylar syndrome  137888  
 

Keywords

Disease 
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 databases
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.