Glutamine:Fructose-6-Phosphate Amidotransferase 1

Alternative Names

GFPT1
GFAT1
GFAT
GFPT1L

Length

67,448 bases

No. of Exons

No. of isoforms

Protein Name

Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1

Molecular Mass

78806 Da

Amino Acid Count

699

Genomic Location

chr2:69,319,780-69,387,227

Gene Map Locus

2p13.3

Description

This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [From RefSeq]

Epidemiology in the Arab World

View Map

Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001244710.2:c.1588C>T	Saudi Arabia	NC_000002.12:g.69329693G>A	Uncertain Significance	Likely Pathogenic	Myasthenic Syndrome, Congenital, 12	NG_029542.1:g.62558C>T; NM_001244710.2:c.1588C>T; NP_001231639.1:p.Arg530Trp	1024585946	1301986
NM_001244710.2:c.686-1G>A	Saudi Arabia	NC_000002.12:g.69354313C>T	Pathogenic	Likely Pathogenic	Myasthenic Syndrome, Congenital, 12	NG_029542.1:g.37938G>A; NM_001244710.2:c.686-1G>A	2104647624	1252034

Download Table

External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=GFPT1

Contributors

Pratibha Nair: 16.11.2023

Edit History

Pratibha Nair: 16.11.2023
Pratibha Nair: 07.12.2014

Back to search Result