KRT1

Chr 12

keratin 1

Also known as: AEI2, CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK

NCBI Gene: 3848 ENSG00000167768 UniProt: P04264

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEpidermolytic hyperkeratosis 1

UniProtIchthyosis hystrix, Curth-Macklin type

UniProtKeratoderma, palmoplantar, non-epidermolytic

UniProtIchthyosis, annular epidermolytic, 2

Clinical highlights

Interpreting a novel variant

A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.40

LOEUF

DN*

Mechanism· G2P

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