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Protein Coding Gene : Nprl3 nitrogen permease regulator-like 3
Primary Identifier  MGI:109258 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  17168
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable GTPase activator activity. Acts upstream of or within circulatory system development and roof of mouth development. Predicted to be part of GATOR1 complex. Predicted to be active in lysosomal membrane. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Human ortholog(s) of this gene implicated in familial focal epilepsy with variable foci 3. Orthologous to human NPRL3 (NPR3 like, GATOR1 complex subunit).
PHENOTYPE: This gene is deleted in the Hbath-J mutation. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-38303,
  • Prox1,
  • MGD-MRK-35141,
  • m(alpha)RE,
  • nitrogen permease regulator-like 3,
  • alpha globin regulatory element containing gene,
  • Nprl3,
  • HS-26,
  • Phg,
  • MGI:106682,
  • proximal locus to the hemoglobin alpha chain complex,
  • -14 gene,
  • HS-40,
  • Mare
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2 Involved In Mutations

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