GDP-Mannose Pyrophosphorylase A

Alternative Names

GMPPA
GDP-Mannose Pyrophosphorylase, Alpha Subunit
GMPP-Alpha

Length

8,099 bases

No. of Exons

No. of isoforms

Protein Name

Mannose-1-phosphate guanyltransferase alpha

Molecular Mass

46291 Da

Amino Acid Count

420

Genomic Location

chr2:219,498,890-219,506,988

Gene Map Locus

2q35

Description

This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NC_000002.12:g.219497835C>T	United Arab Emirates	NC_000002.12:g.219497835C>T					12474050
NM_013335.4:c.922G>A	United Arab Emirates	NC_000002.12:g.219506001G>A		Likely Pathogenic	Alacrima, Achalasia, and Mental Retardation Syndrome	NG_033833.1:g.12137G>A; NM_013335.4:c.922G>A; NP_037467.2:p.Gly308Arg	770069936

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External Links

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

Contributors

Pratibha Nair: 23.06.2022
Pratibha Nair: 10.05.2022

Edit History

Pratibha Nair: 23.06.2022
Pratibha Nair: 10.05.2022

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