Gene: COL27A1
Alternate names for this Gene: STLS
Gene Summary: This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined.
Gene is located in Chromosome: 9
Location in Chromosome : 9q32
Description of this Gene: collagen type XXVII alpha 1 chain
Type of Gene: protein-coding
Gene: LOC105376224
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs1554829390 in
COL27A1;LOC105376224 gene and
Dysmorphic features
PMID 17331945 2007 Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens.
PMID 7990924 1994 Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.
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 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 28276056 2017 Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.
PMID 19204719 2009 Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.
PMID 19414009 2009 The transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturation.
PMID 20041163 2009 Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth.
PMID 22206015 2011 Collagen XXVII organises the pericellular matrix in the growth plate.
PMID 24986830 2015 Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
PMID 8001137 1994 Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.
PMID 12714037 2003 Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1.
rs1554829390 in
COL27A1;LOC105376224 gene and
Multiple congenital anomalies
PMID 12714037 2003 Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1.
PMID 17331945 2007 Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens.
PMID 8001137 1994 Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.
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 22206015 2011 Collagen XXVII organises the pericellular matrix in the growth plate.
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 24986830 2015 Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
PMID 20041163 2009 Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth.
PMID 19414009 2009 The transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturation.
PMID 19204719 2009 Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.
PMID 7990924 1994 Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.
PMID 28276056 2017 Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.