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Protein Coding Gene : Pgm3 phosphoglucomutase 3
Primary Identifier  MGI:97566 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  109785
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables phosphoacetylglucosamine mutase activity. Acts upstream of or within UDP-N-acetylglucosamine biosynthetic process; hemopoiesis; and spermatogenesis. Is expressed in several structures, including cerebral cortex; colon; gonad; heart; and liver. Human ortholog(s) of this gene implicated in immunodeficiency 23 and teratoma. Orthologous to human PGM3 (phosphoglucomutase 3).
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit male infertility, anemia, leukopenia, thrombocytopenia, abnormal pancreatic and salivary gland morphology, and splenomegaly. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-13277,
  • Pgm3,
  • expressed sequence C77933,
  • RIKEN cDNA 2810473H05 gene,
  • phosphoglucomutase 3,
  • 2810473H05Rik,
  • MGD-MRK-13280,
  • MGI:2143369,
  • BB187688,
  • expressed sequence BB187688,
  • MGI:1920033,
  • Pgm-3,
  • GlcNAc-P mutase,
  • MGI:2143392,
  • C77933
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1 Involved In Mutations

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Disease

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