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MGP001122

Record overview

MGPD IDMGP001122
Gene ID2538
SpeciesHomo sapiens (Human)
Gene Nameglucose-6-phosphatase, catalytic subunit
Gene Symbol G6PC
SynonymsG6PT; GSD1; G6PC1; GSD1a;
Alternate namesglucose-6-phosphatase; G-6-Pase; G6Pase; G6Pase-alpha; glucose-6-phosphatase alpha;
Chromosome17
Map Location17q21
EC Number3.1.3.9
SummaryGlucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
OrthologsView orthologs and multiple alignments for G6PC

Proteins

glucose-6-phosphatase isoform 1
Refseq ID:NP_000142
Protein GI:393537031
UniProt ID:P35575
mRNA ID:NM_000151
Length:357
RefSeq Status:
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSVP
LIKQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFWAVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHS
IYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEKAQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIV
ASLVLLHVFDSLKPPSQVELVFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL
 
glucose-6-phosphatase isoform 2
Refseq ID:NP_001257326
Protein GI:393537072
UniProt ID:P35575
mRNA ID:NM_001270397
Length:176
RefSeq Status:
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSVP
LIKQFPVTCETGPGKDKADLQISVLECHFVVGILGCAAECLSVTNLPCCSFSSSSCCWSPVRHCCCRNFQPHPQHL
 
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