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Gene : GMPPB Homo sapiens

Name  ? GDP-mannose pyrophosphorylase B Cytological Location  3p21.31
Brief Description  GDP-mannose pyrophosphorylase B
Description  This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]
  • synonyms:
  • mannose-1-phosphate guanyltransferase beta,
  • LGMDR19,
  • MDDGB14,
  • MDDGA14,
  • MDDGC14,
  • GMPPB,
  • HGNC:22932,
  • uc062jwy.1,
  • KIAA1851,
  • OTTHUMG00000158151,
  • NM_013334,
  • AF135421
  • identifiers:
  • 29925,
  • ENSG00000173540,
  • GMPPB

Genome feature

Region: gene ? Length: 4059  
Location: 3:49719916-49723974 reverse strand Cyto location: 3p21.31


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

3 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

37865 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results