KRT12 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | KRT12 , K12, keratin 12, MECD1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 601687 MGI: 96687 HomoloGene: 188 GeneCards: KRT12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Keratin 12 is a protein that in humans is encoded by the KRT12 gene. [5] [6]
Keratin 12 is keratin found expressed in corneal epithelia. Mutations in the gene encoding this protein lead to Meesmann corneal dystrophy. [5]
Keratin, type I cytoskeletal 4 also known as cytokeratin-4 (CK-4) or keratin-4 (K4) is a protein that in humans is encoded by the KRT4 gene.
Keratin 3 also known as cytokeratin 3 is a protein that in humans is encoded by the KRT3 gene. Keratin 3 is a type II cytokeratin. It is specifically found in the corneal epithelium together with keratin 12.
Keratin 2A also known as keratin 2E or keratin 2 is a protein that in humans is encoded by the KRT2A gene.
Keratin 14 is a member of the type I keratin family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined. Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the KRT14 gene.
Keratin 13 is a protein that in humans is encoded by the KRT13 gene.
Keratin, type I cytoskeletal 10 also known as cytokeratin-10 (CK-10) or keratin-10 (K10) is a protein that in humans is encoded by the KRT10 gene. Keratin 10 is a type I keratin.
Keratin 9 is a protein that in humans is encoded by the KRT9 gene.
Keratin, type I cytoskeletal 17 is a protein that in humans is encoded by the KRT17 gene.
Keratin 16 is a protein that in humans is encoded by the KRT16 gene.
Transforming growth factor, beta-induced, 68kDa, also known as TGFBI, is a protein which in humans is encoded by the TGFBI gene, locus 5q31.
Tumor-associated calcium signal transducer 2, also known as Trop-2 and as epithelial glycoprotein-1 antigen (EGP-1), is a protein that in humans is encoded by the TACSTD2 gene.
Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene.
Keratocan (KTN) also known as keratan sulfate proteoglycan keratocan, is a protein that in humans is encoded by the KERA gene.
Collagen alpha-2(VIII) chain is a protein that in humans is encoded by the COL8A2 gene. Mutations of the gene are linked to posterior polymorphous dystrophy type 2.
Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.
Keratin, type II cuticular Hb1 is a protein that in humans is encoded by the KRT81 gene.
Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.
Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.
UbiA prenyltransferase domain-containing protein 1 (UBIAD1) also known as transitional epithelial response protein 1 (TERE1) is a protein that in humans is encoded by the UBIAD1 gene.
Meesmann corneal dystrophy (MECD) is a rare hereditary autosomal dominant disease that is characterized as a type of corneal dystrophy and a keratin disease. MECD is characterized by the formation of microcysts in the outermost layer of the cornea, known as the anterior corneal epithelium. The anterior corneal epithelium also becomes fragile. This usually affects both eyes rather than a single eye and worsens over time. There are two phenotypes, Meesmann corneal dystrophy 1 (MECD1) and Meesmann corneal dystrophy 2 (MECD2), which affect the genes KRT3 and KRT12, respectively. A heterozygous mutation in either of these genes will lead to a single phenotype. Many with Meesmann corneal dystrophy are asymptomatic or experience mild symptoms.