Browse All / Genes / COL17A1

COL17A1

collagen type XVII alpha 1 chain
5 disorders 3 no genetic record 2 untyped 10q25.1 gene with protein product
HGNC:2194MonarchNCBI Gene 1308ENSG00000065618UniProt Q9UMD9OMIM 113811

Previous symbols: BPAG2. Aliases: BP180.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Epidermolysis Bullosa untyped
Causative
mechanism: Basement Membrane Zone Structural Disruption
Junctional Epidermolysis Bullosa untyped
Causative
mechanism: COL17A1 (BP180) Deficiency
subtype: JEB Intermediate (Non-Herlitz / Generalized Atrophic Benign EB); JEB Late Onset
Bullous Pemphigoid no genetic record
mechanism: Anti-Hemidesmosomal Autoantibody Formation
Corneal Dystrophy no genetic record
mechanism: Epithelial Basement Membrane Adhesion Failure
subtype: ERED
Mucous Membrane Pemphigoid no genetic record
mechanism: Anti-Basement Membrane Zone Autoantibody Production
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.