GDP-Mannose Pyrophosphorylase A

Alternative Names

  • GMPPA
  • GDP-Mannose Pyrophosphorylase, Alpha Subunit
  • GMPP-Alpha
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OMIM Number

615495

NCBI Gene ID

29926

Uniprot ID

Q96IJ6

Length

8,099 bases

No. of Exons

13

No. of isoforms

2

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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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NC_000002.12:g.219497835C>TUnited Arab EmiratesNC_000002.12:g.219497835C>T12474050
NM_013335.4:c.922G>AUnited Arab EmiratesNC_000002.12:g.219506001G>AAlacrima, Achalasia, and Mental Retardation SyndromeNG_033833.1:g.12137G>A; NM_013335.4:c.922G>A; NP_037467.2:p.Gly308Arg770069936
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