Reference Gene

Gene name Alias Species Exons Type Paralogs EC number OMIM
KRT6A keratin 6A K6A , K6C , K6D , PC3 , CK6A , CK6C , CK6D , CK-6C , CK-6E , KRT6C , KRT6D Homo sapiens 9 protein-coding KRT8 , KRT6C , KRT6B , KRT80 , KRT74 , KRT71 , KRT72 , KRT73 , KRT77 , KRT78 , KRT4 , KRT79 , KRT76 , KRT3 , KRT2 , KRT1 , KRT75 , KRT5 , KRT85 , KRT86 , KRT81 , KRT83 , KRT84 , KRT82 , KRT7 148041

Summary

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. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014]

GeneOntology

Gene Loss events - KRT6A (3 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_JJ7XJU Physeter catodon Artiodactyla Other Full No 10.1186/s12983-017-0225-x
GL_MGBMVN Vicugna pacos Artiodactyla Other Full No 10.1186/s12983-017-0225-x
GL_SAID2O Balaena mysticetus Artiodactyla Other Full No 10.1186/s12983-017-0225-x