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KRT9 keratin 9

Gene ID: 3857, updated on 20-Apr-2024
Gene type: protein coding
Also known as: K9; CK-9; EPPK; EPPK1

Summary

This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Epidermolytic palmoplantar keratoderma
MedGen: C1721006OMIM: 144200GeneReviews: Not available
See labs

Genomic context

Location:
17q21.2
Sequence:
Chromosome: 17; NC_000017.11 (41565836..41572059, complement)
Total number of exons:
8

Links

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