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Protein Coding Gene : Lhfpl5 lipoma HMGIC fusion partner-like 5

Primary Identifier  MGI:1915382 Organism  mouse, laboratory
Chromosome  17 NCBI Gene Number  328789
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Acts upstream of or within auditory receptor cell stereocilium organization and detection of mechanical stimulus involved in sensory perception of sound. Located in apical plasma membrane and stereocilium tip. Is expressed in several structures, including cranial ganglion; genitourinary system; inner ear; lung; and superior cervical ganglion. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 67. Orthologous to human LHFPL5 (LHFPL tetraspan subfamily member 5).
PHENOTYPE: Mutations in this gene result in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. [provided by MGI curators]
  • synonyms:
  • hscy,
  • tetraspan transmembrane protein, hair cell stereocilia,
  • hurry-scurry,
  • 9330179O15Rik,
  • MGI:2683900,
  • Lhfpl5,
  • RIKEN cDNA 9330179O15 gene,
  • LOC328789,
  • Tmhs,
  • lipoma HMGIC fusion partner-like 5

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Genome

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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Proteins

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Mouse features --> Functions (GO terms)

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