SRCAP - Helicase SRCAP - human protein (Medical)
 
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Protein
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SRCAP »  Helicase SRCAP   [ EC 3.6.4.- ]
 
Protein also known as:  Snf2-related CBP activator.
Gene name:  SRCAP
Family name: SNF2/RAD54 helicase » SWR1
Entry whose protein(s) existence is based on evidence at protein level
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1 61 3
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Floating-Harbor syndrome (FLHS) [MIM:136140]: A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. The disease is caused by mutations affecting the gene represented in this entry.  
1
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Floating-Harbor syndrome  2044  
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 10847
GeneReviews: SRCAP
MIM: 136140
PharmGKB: PA162404706
Polymorphism databases
DMDM: 296452947
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.