KRT1
MIM.139350 12q13
Keratin-1 is a specific marker for terminal differentiation in mammalian epidermis.
Pathology
germline heterozygous mutation in
- epidermolytic hyperkeratosis (MIM.113800)
- nonepidermolytic palmoplantar keratoderma (Unna-Thost disease) (MIM.600962)
- autosomal dominant cyclic ichthyosis with epidermolytic hyperkeratosis (MIM.607602)
- palmoplantar keratoderma (MIM.144200)
- striata palmoplantaris keratosis (SPPK) (MIM.607654)
- in ichthyosis hystrix, Curth-Macklin type (IHCM) (MIM.146590)
- late onset epidermolytic hyperkeratosis (MIM.113800)