CDKN1C - Cyclin-dependent kinase inhibitor 1C - human protein (Medical)
 
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CDKN1C »  Cyclin-dependent kinase inhibitor 1C
 
Protein also known as:  Cyclin-dependent kinase inhibitor p57.
Gene name:  CDKN1C
Family name: CDI
Entry whose protein(s) existence is based on evidence at protein level
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1 109 2
GENE REF ISO

Displayed isoform: Long     

 
 

Medical

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Disease 
Beckwith-Wiedemann syndrome (BWS) [MIM:130650]: A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]: A rare condition characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Defects in CDKN1C are involved in tumor formation.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Beckwith-Wiedemann syndrome due to CDKN1C mutation  231120  
IMAGe syndrome  85173  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Tumor suppressor  definition   [KW-0043]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 1028
MIM: 614732
MIM: 130650
PharmGKB: PA26320
Polymorphism databases
DMDM: 1705731
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.