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Protein Coding Gene : Hapln1 hyaluronan and proteoglycan link protein 1
Primary Identifier  MGI:1337006 Organism  mouse, laboratory
Chromosome  13 NCBI Gene Number  12950
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable hyaluronic acid binding activity. Predicted to be an extracellular matrix structural constituent conferring compression resistance. Predicted to be involved in nervous system development; positive regulation of neuroblast proliferation; and skeletal system development. Located in extracellular matrix. Is active in synapse. Is expressed in several structures, including brain; genitourinary system; heart; lower leg; and submandibular gland. Used to study spondyloepiphyseal dysplasia congenita. Orthologous to human HAPLN1 (hyaluronan and proteoglycan link protein 1).
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in cartilage development and delayed bone formation with short limbs and craniofacial anomalies. Mutants usually die as neonates due to respiratory failure, but some survive and develop dwarfism. [provided by MGI curators]
  • synonyms:
  • Crtl1,
  • link protein,
  • CLP,
  • MGI:2145470,
  • hyaluronan and proteoglycan link protein 1,
  • Hapln1,
  • Crtl1l,
  • MGI:1277951,
  • BB099155,
  • cartilage linking protein 1,
  • expressed sequence BB099155,
  • cartilage link protein 1,
  • LP-1,
  • cartilage link protein 1-like
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1 Involved In Mutations

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Trail: ProteinCodingGene

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