SKI - Ski oncogene - human protein (Medical)
 
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Protein
Gene
References

 
SKI »  Ski oncogene
 
Protein also known as:  Proto-oncogene c-Ski.
Gene name:  SKI
Family name: SKI
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 87 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]: A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities. The disease is caused by mutations affecting the gene represented in this entry.  
5
  • UniProtKB
According to Orphanet, this protein is involved in the following diseases:
1p36 deletion syndrome  1606  
Shprintzen-Goldberg syndrome  2462  
 

Keywords

Disease 
Craniosynostosis  definition   [KW-0989]
Disease mutation  definition   [KW-0225]
Proto-oncogene  definition   [KW-0656]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 6497
GeneReviews: SKI
MIM: 182212
PharmGKB: PA35796
Polymorphism and mutation databases
BioMuta: SKI
DMDM: 134517
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.