PMM2

GENE INFORMATION

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Gene name

PMM2 (HGNC Symbol)

Synonyms

CDG1, CDG1a, CDGS, PMI, PMI1

Description

Phosphomannomutase 2 (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Jul 2008]

Chromosome

16

Cytoband

p13.2

Chromosome location (bp)

8788823 - 8849331

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000140650 (version 78.38)

Entrez gene

5373

UniProt

O15305 (UniProt - Evidence at protein level)

neXtProt

NX_O15305

Antibodypedia

PMM2 antibodies
 

PROTEIN VIEW

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PMM2-001
 
PMM2-015
 
PMM2-018
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PMM2-001 ENSP00000268261
ENST00000268261
O15305
Show all »
Show » Show » 246 28.1 No 0
PMM2-015 ENSP00000456302
ENST00000569958
H3BRM0
Show all »
Show » Show » 155 17.5 No 0
PMM2-018 ENSP00000457956
ENST00000566983
H3BV55
Show all »
Show » Show » 219 25.3 No 0