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Protein Coding Gene : Lss lanosterol synthase

Primary Identifier  MGI:1336155 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  16987
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable lanosterol synthase activity. Predicted to be involved in cholesterol biosynthetic process and regulation of protein stability. Predicted to act upstream of or within lipid metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in lipid droplet. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study cataract. Human ortholog(s) of this gene implicated in alopecia-mental retardation syndrome 4; cataract; cataract 44; and hypotrichosis 14. Orthologous to human LSS (lanosterol synthase).
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality and congenital cataracts associated with incomplete lens fiber cell differentiation and disrupted cholesterol biosynthesis pathways. [provided by MGI curators]
  • synonyms:
  • DNA segment, Chr 10, ERATO Doi 116, expressed,
  • RIKEN cDNA 2810025N20 gene,
  • MGC:27893,
  • Lss,
  • BC029082,
  • D10Ertd116e,
  • MGI:1098720,
  • lanosterol synthase,
  • 2810025N20Rik,
  • MGI:1914310,
  • cDNA sequence BC029082,
  • Osc,
  • MGI:2384912

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0 CDSs

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5 Involved In Mutations

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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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Interactions

4 Pathways

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