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Protein Coding Gene : Col27a1 collagen, type XXVII, alpha 1
Primary Identifier  MGI:2672118 Organism  mouse, laboratory
Chromosome  4 NCBI Gene Number  373864
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

An extracellular matrix structural constituent. Acts upstream of or within extracellular matrix organization and growth plate cartilage chondrocyte development. Located in collagen-containing extracellular matrix. Part of fibrillar collagen trimer. Is expressed in several structures, including alimentary system; limb mesenchyme; respiratory system; sensory organ; and skeletal system. Orthologous to human COL27A1 (collagen type XXVII alpha 1 chain).
PHENOTYPE: Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. [provided by MGI curators]
  • synonyms:
  • expressed sequence AI449266,
  • collagen, type XXVII, alpha 1,
  • MGI:2140286,
  • 5730512J02Rik,
  • RIKEN cDNA 5730512J02 gene,
  • Col27a1,
  • AI449266,
  • MGI:1913902
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