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Protein Coding Gene : Sorl1 sortilin-related receptor, LDLR class A repeats-containing

Primary Identifier  MGI:1202296 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  20660
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables aspartic-type endopeptidase inhibitor activity. Involved in several processes, including diet induced thermogenesis; establishment of protein localization; and regulation of signal transduction. Located in extracellular space; membrane; and nucleus. Is expressed in several structures, including genitourinary system; gut; hemolymphoid system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease. Orthologous to human SORL1 (sortilin related receptor 1).
PHENOTYPE: Homozygous mutation of this gene results in decreased femoral artery intimal thickness after cuff placement and abolished angiotensin II stimulated vascular smooth muscle migration and attachment. Two other alleles show an increase in beta-amyloid deposits or peptide in the brain. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA 2900010L19 gene,
  • expressed sequence AW261561,
  • AI596264,
  • MGI:1920160,
  • MGI:2143305,
  • Sorla,
  • AW261561,
  • LR11,
  • mSorLA,
  • 2900010L19Rik,
  • Sorl1,
  • MGI:2143102,
  • expressed sequence AI596264,
  • sortilin-related receptor, LDLR class A repeats-containing

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