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FLASH GENE

Symbol

COL7A1

contributors: mct - updated : 10-02-2010

HGNC name	collagen, type VII, alpha 1
HGNC id	2214

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

EBDD , EBDDN , EBDR , EBDRO , EBSS , EBDPR

Susceptibility

to squamous cell carcinoma

Variant & Polymorphism other	retention of a specific collagen VII fragment (the N-terminal noncollagenous domain NC1) in a subset of RDEB patients may contribute to their increased susceptibility to squamous cell carcinoma

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed dermatology skin   molecular strategy for counteracting dominant-negative interference of glycine substitution mutations by shifting the balance between WT and mutant alpha-chains forming the collagen triple helix

ANIMAL & CELL MODELS