COL17A1

Chr 10ARAD

collagen type XVII alpha 1 chain

Also known as: BA16H23.2, BP180, BPA-2, BPAG2, ERED, JEB4, LAD-1

NCBI Gene: 1308 ENSG00000065618 UniProt: Q9UMD9 OMIM: 113811

This gene encodes type XVII collagen, a transmembrane protein that forms hemidesmosomes and mediates adhesion of keratinocytes to the basement membrane at the dermal-epidermal junction. Mutations cause junctional epidermolysis bullosa and epithelial recurrent erosion dystrophy, inherited in both autosomal recessive and autosomal dominant patterns. The gene is highly constrained against loss-of-function variants (LOEUF 0.75), indicating that complete loss of function is likely not tolerated.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Epidermolysis bullosa, junctional 4, intermediateMIM #619787

Epithelial recurrent erosion dystrophyMIM #122400

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.75

LOEUF

LOF*

Mechanism· G2P

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