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Gene : PMM2 Homo sapiens

Name  ? phosphomannomutase 2 Cytological Location  16p13.2
Brief Description  phosphomannomutase 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. [provided by RefSeq, Jul 2008]
  • synonyms:
  • HGNC:9115,
  • NM_000303,
  • CDG1,
  • PMI1,
  • PMI1,
  • CDGS,
  • CDG1a,
  • PMM2,
  • CDG1a,
  • PMI,
  • BC008310,
  • CDG1,
  • mannose-6-phosphate isomerase,
  • OTTHUMG00000129697,
  • uc002czf.5,
  • CDGS,
  • phosphomannose isomerase 1,
  • PMI,
  • PMM 2
  • identifiers:
  • 5373,
  • ENSG00000140650,
  • PMM2

Genome feature

Region: gene ? Length: 51525  
Location: 16:8797813-8849337 Cyto location: 16p13.2


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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

654 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results