Variant: rs1554787366 

    present in Gene: COL27A1
    present in Chromosome: 9
    Position on Chromosome: 114167926
    Alleles of this Variant: T/-

rs1554787366 in COL27A1 gene and Multiple congenital anomalies PMID 19414009 2009 The transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturation.

PMID 12714037 2003 Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1.

PMID 12766169 2003 A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family.

PMID 8001137 1994 Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.

PMID 22206015 2011 Collagen XXVII organises the pericellular matrix in the growth plate.

PMID 20041163 2009 Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth.

PMID 7990924 1994 Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

PMID 24986830 2015 Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.

PMID 28276056 2017 Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

PMID 15922909 2005 The new collagen gene COL27A1 contains SOX9-responsive enhancer elements.

PMID 17693149 2007 Type XXVII collagen at the transition of cartilage to bone during skeletogenesis.

PMID 19204719 2009 Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.

PMID 17331945 2007 Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens.