XB-GENEPAGE-6467920
???displayGene.symbol???:
col17a1
???displayGene.name???:
collagen, type XVII, alpha 1
???displayGene.synonyms???
bp180
,
bpag2
,
lad-1
(
Nomenclature history )
AI Protein Function
:
col17a1 encodes a transmembrane collagen that functions as a structural component of hemidesmosomes, mediating epidermal adhesion to the basement membrane and contributing to skin integrity and wound r...[+]
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Diseases:
Disease Ontology:
junctional epidermolysis bullosa non-Herlitz type
MIM:
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE; JEB1A
External Links:
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