KRT25 Chromosome 17

Keratin 25

3 variants 3 Health Risk

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What This Gene Does

This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]

Gene Info

Gene Group

Keratins, type I

Locus Type

gene with protein product

Location

17q21.2

Ensembl

ENSG00000204897

Associated Conditions (4)

Hypotrichosis 8

Wooly hair

autosomal recessive 3

Autosomal Recessive Hypotrichosis with Woolly Hair

Key Variants

RS757053983

Conflicting classifications of pathogenicity

Health Risk

RS766783183

Pathogenic

Hypotrichosis 8, Wooly hair, autosomal recessive 3

Health Risk

RS879253749

Pathogenic

Autosomal Recessive Hypotrichosis with Woolly Hair, Wooly hair, autosomal recessive 3

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS757053983	Health Risk	Conflicting classifications of pathogenicity	—
RS766783183	Health Risk	Pathogenic	Hypotrichosis 8, Wooly hair, autosomal recessive 3
RS879253749	Health Risk	Pathogenic	Autosomal Recessive Hypotrichosis with Woolly Hair, Wooly hair, autosomal recessive 3