Glucose-6-Phosphatase, Catalytic

Alternative Names

  • G6PC
  • Glucose-6-Phosphatase, Catalytic, 1
  • G6PC1
  • G6PT

Associated Diseases

Glycogen Storage Disease I
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OMIM Number

613742

NCBI Gene ID

2538

Uniprot ID

P35575

Length

13,637 bases

No. of Exons

5

No. of isoforms

2

Protein Name

Glucose-6-phosphatase

Molecular Mass

40484 Da

Amino Acid Count

357

Genomic Location

chr17:42,900,797-42,914,433

Gene Map Locus
17q21.31

Description

The G6PC gene encodes glucose-6-phosphatase, an integral membrane enzyme of the endoplasmic reticulum. The enzyme is responsible for the breakdown of glucose-6-phosphate into glucose, and hence plays a key role in maintaining glucose homeostasis through the pathways of gluconeogenesis and glycogenolysis. The enzyme is also involved in cholesterol homeostasis and regulation of gene expression. 

In the absence of the G6PC enzyme, glucose-6-phosphatase is instead converted to fat and glycogen which accumulates in the cells. This toxic accumulation causes tissue and organ damage and eventually results in Glycogen Storage Disease Ia (GSD1a), a disorder characterized by growth retardation, hepatomegaly, lactic acidosis and hypoglycemia.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000151.3:c.209G>ALebanonNC_000017.11:g.42901085G>APathogenicPathogenicGlycogen Storage Disease ING_011808.1:g.5288G>A; NM_000151.3:c.209G>A; NP_000142.2:p.Trp70Ter1567702823813495
NM_000151.3:c.247C>TPalestine; Saudi Arabi...chr17:42903947PathogenicPathogenicGlycogen Storage Disease ING_011808.1:g.8150C>T; NM_000151.3:c.247C>T; NP_000142.2:p.Arg83Cys180117511998
NM_000151.3:c.323C>TLebanonNC_000017.11:g.42904023C>TLikely PathogenicPathogenicNG_011808.1:g.8226C>T; NM_000151.3:c.323C>T; NP_000142.2:p.Thr108Ile1597988331651731
NM_000151.3:c.497T>GPalestinechr17:42909353PathogenicPathogenicGlycogen Storage Disease ING_011808.1:g.13556T>G ; NM_000151.3:c.497T>G; NP_000142.2:p.Val166Gly10489457112010
NM_001270397.1:c.352G>CUnited Arab EmiratesNC_000017.11:g.42907611G>CLikely PathogenicGlycogen Storage Disease INM_001270397.1:c.352G>C; NP_001257326.1:p.Ala118Pro
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