Reference Gene

Gene name Alias Species Exons Type Paralogs EC number OMIM
KRT75 keratin 75 K75 , PFB , K6HF , KB18 , CK-75 , hK6hf Homo sapiens 9 protein-coding KRT8 , KRT6C , KRT6B , KRT6A , KRT80 , KRT74 , KRT71 , KRT72 , KRT73 , KRT77 , KRT78 , KRT4 , KRT79 , KRT76 , KRT3 , KRT2 , KRT1 , KRT5 , KRT85 , KRT86 , KRT81 , KRT83 , KRT84 , KRT82 , KRT7 609025

Summary

This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]

GeneOntology

Gene Loss events - KRT75 (8 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_08ETTA Neophocaena asiaeorientalis asiaeorientalis Artiodactyla Other Full No 10.1186/s12983-017-0225-x
GL_A21VJV Balaenoptera acutorostrata Artiodactyla Other Full No 10.1186/s12983-017-0225-x
GL_BCHK3S Lipotes vexillifer Artiodactyla Other Full No 10.1186/s12983-017-0225-x
GL_BL6KS4 Orcinus orca Artiodactyla Other Full No 10.1186/s12983-017-0225-x
GL_BUJWUE Balaena mysticetus Artiodactyla Other Full No 10.1186/s12983-017-0225-x
GL_NXG8AG Tursiops truncatus Artiodactyla Other Full No 10.1186/s12983-017-0225-x
GL_SOKFS9 Physeter catodon Artiodactyla Gene deletion Full No 10.1186/s12983-017-0225-x
GL_TKXF9G Balaenoptera acutorostrata Artiodactyla LOF (frameshift, premature stop, ss) Full No 10.1186/1471-2164-15-869