Glucokinase

Alternative Names

  • GCK
  • GK
  • GLK
  • Hexokinase 4
  • HK4
  • Liver Glucokinase
  • LGLK
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OMIM Number

138079

NCBI Gene ID

2645

Uniprot ID

P35557

Length

46,227 bases

No. of Exons

15

No. of isoforms

3

Protein Name

Hexokinase-4

Molecular Mass

52191 Da

Amino Acid Count

465

Genomic Location

chr7:44,143,212-44,189,438

Gene Map Locus
7p13

Description

This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000162.3:c.667G>AArabNC_000007.14:g.44149772C>TPathogenicLikely PathogenicDiabetes Mellitus, Permanent Neonatal, 1NG_008847.1:g.44652G>A; NM_000162.3:c.667G>A; NP_000153.1:p.Gly223Ser1360415315435306
NM_000162.5:c.635_637delUnited Arab EmiratesNC_000007.14:g.44149804_44149806delLikely Pathogenic, Uncertain SignificancePathogenicHyperinsulinemic Hypoglycemia, Familial, 3NG_008847.2:g.53367_53369del; NM_000162.5:c.635_637del; NP_000153.1:p.Ser212del19392231436237
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