Cyclin-Dependent Kinase Inhibitor 1C

Alternative Names

  • CDKN1C
  • p57
  • KIP2

Associated Diseases

Beckwith-Wiedemann Syndrome
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OMIM Number

600856

NCBI Gene ID

1028

Uniprot ID

P49918

Length

2,604 bases

No. of Exons

4

No. of isoforms

2

Protein Name

Cyclin-Dependent Kinase Inhibitor 1C

Molecular Mass

32177 Da

Amino Acid Count

316

Genomic Location

chr11:2,883,217-2,885,774

Gene Map Locus
11p15.4

Description

Cyclin-Dependent Kinase Inhibitor 1C (CDKN1C) is a tumor suppressor; a protein involved in the regulation of cell division.  Because it is a strong, tight inhibitor of several G1 cyclin/CDK complexes, this protein is a negative regulator of cell proliferation.  One of the major functions of this protein is in controlling prenatal growth, by preventing the fetus from growing abnormally large. 

Mutations in CDKN1C gene cause disorders like Beckwith Wiedemann Syndromem (BWS), a condition characterized by prenatal and postnatal overgrowth.  In addition, defects in CDKN1C have also been shown to result in a condition known as Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies (IMAGe).  This condition is characterized by delayed prenatal and postnatal growth, and hormonal and genital abnormalities in males.  

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000076.2:c.703C>TUnited Arab Emirateschr11:2884787PathogenicBeckwith-Wiedemann SyndromeNG_008022.1:g.5979C>T; NM_000076.2:c.703C>T; NP_000067.1:p.Gln235Ter483352989
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