Phosphomannomutase 2

Alternative Names

  • PMM2
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OMIM Number

601785

NCBI Gene ID

5373

Uniprot ID

O15305

Length

60,504 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Phosphomannomutase 2

Molecular Mass

28082 Da

Amino Acid Count

246

Genomic Location

chr16:8,788,823-8,849,326

Gene Map Locus
16p13.2

Description

The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000303.3:c.127G>ALebanonNC_000016.10:g.8801859G>ALikely PathogenicLikely PathogenicCongenital Disorder of Glycosylation, Type IaNG_009209.1:g.9047G>A; NM_000303.3:c.127G>A; NP_000294.1:p.Val43Met376754460495321
NM_000303.3:c.385G>ALebanonchr16:8811116Likely Pathogenic, PathogenicPathogenicCongenital Disorder of Glycosylation, Type IaNG_009209.1:g.18304G>A; NM_000303.3:c.385G>A; NP_000294.1:p.Val129Met1048945257708
NM_000303.3:c.422G>ALebanonchr16:8811153PathogenicLikely Pathogenic, PathogenicCongenital Disorder of Glycosylation, Type Ia NG_009209.1:g.18341G>A; NM_000303.3:c.422G>A; NP_000294.1:p.Arg141His289364157706
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