This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]

  • Cellular glucose homeostasis
  • Carbohydrate metabolic process
  • Regulation of glycolytic process
  • Protein import into nucleus
  • Response to fructose
  • Fasting plasma glucose level quantitative trait locus 5
  • Maturity-onset diabetes of the young
  • Hyperglycemia
  • Hyperinsulinemic hypoglycemia
  • Maturity-onset diabetes of the young, type 2
  • Other Cardiac Condtions

Based on Ayass Bioscience, LLC Data Analysis

Gene Location

HM-VUS Prevalence

% 0.102050459652706

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

High/Med VUS Variants

A=0.002681(674/251402,GnomAD_exome)
A=0.002039(256/125568,TOPMED)
A=0.002283(277/121334,ExAC)
A=0.00017(15/88596,ALFAProject)
A=0.00651(512/78700,PAGE_STUDY)
A=0.00096(30/31374,GnomAD)
A=0.00008(1/13006,GO-ESP)
A=0.0044(22/5008,1000G)
T=0.0003(1/3854,ALSPAC)
T=0.0000(0/3708,TWINSUK)
A=0.0123(36/2922,KOREAN)
A=0.0136(25/1832,Korea1K)
G=0.5(4/8,SGDP_PRJ)
A=0.5(4/8,SGDP_PRJ)