Gene: COL17A1

Alternate names for this Gene: BA16H23.2|BP180|BPA-2|BPAG2|ERED|LAD-1

Gene Summary: This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form.

Gene is located in Chromosome: 10

Location in Chromosome : 10q25.1

Description of this Gene: collagen type XVII alpha 1 chain

Type of Gene: protein-coding

rs121912771 in COL17A1 gene and Adult junctional epidermolysis bullosa (disorder) PMID 11912005 2002 A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa.

PMID 9199555 1997 Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.

PMID 10652291 2000 Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15.

PMID 10951237 2000 Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain.

PMID 8669466 1996 Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.

PMID 19340010 2009 Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications.

PMID 9204958 1997 A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.

PMID 16354180 2005 Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII.

PMID 21357940 2011 Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.

PMID 9077475 1997 Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.

PMID 12813757 2003 Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

PMID 11406649 2001 Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation.

PMID 14614394 2004 A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel.

PMID 10636730 1999 Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa.

rs1320448 in COL17A1 gene and Cardiac Hypertrophy PMID 21348951 2011 Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.

rs1320448 in COL17A1 gene and Cardiomegaly PMID 21348951 2011 Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.

rs11191909 in COL17A1 gene and Primary biliary cirrhosis PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.