Taxon:

Human

Gene:

IMAGe syndrome (CDKN1C)

Chromosome:

11

Location:

11p15

Description:

IMAGe syndrome showed an imprinted mode of inheritance in which only maternal transmission of the mutation resulted in the syndrome (Arboleda VA et al, 2012). All IMAGe-associated mutations clustered in the PCNA-binding domain of CDKN1C and resulted in loss of PCNA binding, and probable gain of function of the protein.

Category:

Imprinted genes

Record:

1318

Last Modified 6/28/2012

Links:

OMIM  


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