KRT3 Gene

Last updated on: 29.01.2022

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Definition
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The KRT3 gene (KRT3 stands for keratin 3) is a protein-coding gene located on chromosome 12q13.13. The protein encoded by this gene belongs to the keratin protein family.

General information
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Type II cytokeratins are clustered in a region of chromosome 12q12-q13.

The type II cytokeratins consist of basic or neutral proteins arranged in pairs of heterotypic keratin chains that are co-expressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in corneal epithelium with family member KRT12.

Diseases associated with KRT3 include:

Corneal dystrophy, Meesmann, 2

Corneal dystrophy, Meesmann, 1.

Literature
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  1. Chen JL et al (2015) Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. Mol Vis 21:1378-1386.
  2. Nishino Tet al (2019) In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy. Jpn J Ophthalmol 63:46-55.

Incoming links (1)

Keratin;

Last updated on: 29.01.2022