COL7A1

Gene

collagen type VII alpha 1 chain

HGNCHGNC:2214 EnsemblENSG00000114270 NCBI Gene1294

Locus: gene with protein productLocation: 3p21.31

Encodes

via encodes

The protein product this gene encodes, reached through the canonical GENE→PROTEIN (encodes) relation. Its biology, drugs, indications, trials and therapeutic evidence live on the protein's own page.

Collagen alpha-1(VII) chainQ02388

Protein · therapeutic target

Clinically validated target · 1 approved medicine against this target

Explore protein biology & therapeutics

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asEBDCT · EBD1 · EBR1

View full nomenclature history (7)

Previous symbolsEBDCT, EBD1, EBR1

Previous namescollagen, type VII, alpha 1, epidermolysis bullosa, dystrophic, dominant and recessive

Alias namescollagen VII, alpha-1 polypeptide, LC collagen

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Epidermolysis Bullosa Dystrophica

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

CollagensFibronectin type III domain containingMicroRNA protein coding host genes

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.

Open TargetsGene–disease associations from the Open Targets Platform.