KRT9 gene

keratin 9

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly.

From NCBI Gene:

  • Epidermolytic palmoplantar keratoderma

From UniProt:

Keratoderma, palmoplantar, epidermolytic (EPPK): A dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. [MIM:144200]

Cytogenetic Location: 17q21.2, which is the long (q) arm of chromosome 17 at position 21.2

Molecular Location: base pairs 41,565,841 to 41,572,058 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q21.2, which is the long (q) arm of chromosome 17 at position 21.2
  • CK-9
  • EPPK
  • K9