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The protein encoded by KRT86 is a member of the keratin gene family. Zusätzlich bieten wir Ihnen Keratin 86 Antikörper (26) und Keratin 86 Proteine (2) und viele weitere Produktgruppen zu diesem Protein an.
Analysis of KRT86 revealed a novel mutation, c.1231G>T;p.Glu411*, in exon 7 in the three affected children and their mother with monilethrix.
Novel mutations causing monilethrix are reported in KRT81 (zeige KRT81 ELISA Kits), KRT83 (zeige KRT83 ELISA Kits), and KRT86.
The mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix.
Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation.
Results idntify a novel mutation of krt86 protein causing monilethrix located in a region other than the helix.
The KRTHB6 expression uniformly occurred in the midcortex region.
The results emphasized the key role of hair keratin hHB6 in the pathogenesis of monilethrix and indicated that the common mutation of hHB6 was also a cause of monilethrix in Chinese.
Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.
The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle\; this hair keratin, as well as KRTHB1 and KRTHB3, is found primarily in the hair cortex. Mutations in this gene and KRTHB1 have been observed in patients with a rare dominant hair disease, monilethrix.
keratin, type II cuticular Hb6
, type II keratin Kb26
, keratin 86
, hair keratin type II intermediate filament
, hair keratin K2.11
, hard keratin, type II, 6
, keratin protein HB6
, keratin, hair, basic, 6 (monilethrix)
, type II hair keratin Hb6
, type-II keratin Kb26
, keratin complex 2, basic, gene 10