G6PC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | G6PC3, SCN4, UGRP, glucose 6 phosphatase catalytic subunit 3, glucose-6-phosphatase catalytic subunit 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 611045; MGI: 1915651; HomoloGene: 16304; GeneCards: G6PC3; OMA:G6PC3 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Glucose-6-phosphatase 3, also known as glucose-6-phosphatase beta, is an enzyme that in humans is encoded by the G6PC3 gene.[5][6][7]
This gene encodes the catalytic subunit of glucose 6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose 6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways.[5]
Mutations in this gene result in autosomal recessive severe congenital neutropenia.[8]
G6PC3 deficiency results in a phenotypic continuum.[9][10] At one end the affected individuals have only neutropenia and related complications but no other organ is affected. This is sometimes referred to as non-syndromicorisolated severe congenital neutropenia.[11] Most affected individuals have a classic form of the disease with severe congenital neutropenia and cardiovascular and/or urogenital abnormalities.[12][13] Some individuals have severe G6PC3 deficiency (also known as Dursun syndrome) and they have all the features of classic G6PC3 deficiency but in addition show involvement of non-myeloid hematopoietic cell lines, some other extra-hematologic features and pulmonary hypertension.[14]
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This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it. |