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FLASH GENE

Symbol

COL14A1

contributors: mct/npt - updated : 07-11-2016

HGNC name	collagen, type XIV, alpha 1
HGNC id	2191

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PPPK

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   by hypermethylation in renal cell carcinoma (Morris 2010)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Type XIV Collagen-deficient Mice Have Altered Biomechanical Properties of Skin (Ansorge 2009)
	mice null for Collagen XIV are viable, however formation of the interstitial collagen network is defective in tendons and skin leading to reduced biomechanical function