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Protein Coding Gene : Nhs NHS actin remodeling regulator
Primary Identifier  MGI:2684894 Organism  mouse, laboratory
Chromosome  X NCBI Gene Number  195727
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Acts upstream of or within cell differentiation and lens development in camera-type eye. Predicted to be located in Golgi apparatus; cell junction; and nuclear body. Is expressed in several structures, including alimentary system; brain; epithelium; eye; and skin. Used to study Nance-Horan syndrome. Human ortholog(s) of this gene implicated in Nance-Horan syndrome and cataract 40. Orthologous to human NHS (NHS actin remodeling regulator).
PHENOTYPE: Heterozygous females exhibit variable and patchy lens opacity. Homozygous females and hemizygous males exhibit complete lens opacity associated with progressive degeneration of primary fibers beginning around embryonic day 15. [provided by MGI curators]
  • synonyms:
  • LOC195727,
  • Nhs,
  • MGI:98971,
  • Gm48,
  • gene model 389, (NCBI),
  • MGI:2685235,
  • X-linked cataract,
  • MGD-MRK-15469,
  • Nance-Horan syndrome (human),
  • gene model 48, (NCBI),
  • LOC245686,
  • Gm389,
  • NHS actin remodeling regulator,
  • Xcat
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