Keratin 6C "chromosome" 12q. Keratin 6A and keratin 6B are encoded by the neighbouring genes, which are identical in intron-exon organization to "KRT6C" and are more than 99% identical in their DNA coding sequences. Mutations in K6C have been identified as being able to cause diffuse and focal palmoplantar keratodermas. This has been identified as a form of Pachyonychia congenita. Keratin 6C Keratin 6C (protein name K6C; gene name "KRT6C"), is a type II cytokeratin, one of a number of isoforms of keratin 6 encoded by separate genes located within the type II keratin gene cluster on human chromosome 12q. This gene
Elastin glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Multiple transcript variants encoding different isoforms have been found for this gene. Elastin's soluble precursor is tropoelastin. The characterization of disorder is consistent with an entropy-driven mechanism of elastic recoil. It is concluded that conformational disorder is a constitutive feature of elastin structure and function. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and the autosomal dominant cutis laxa. Other associated defects in elastin include Marfan syndrome, emphysema caused by α-antitrypsin deficiency, atherosclerosis, Buschke-Ollendorff syndrome, Menkes syndrome, pseudoxanthoma elasticum, and Williams