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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 KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix.
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Protein Aliases: ghHb1; ghHKb1; Hair keratin K2.9; hard keratin, type II, 1; K81; keratin 81, type II; Keratin, hair, basic, 1; Keratin, type II cuticular Hb1; Keratin-81; Metastatic lymph node 137 gene protein; MLN 137; Type II hair keratin Hb1; Type-II keratin Kb21
Gene Aliases: ghHkb1; Hb-1; HB1; hHAKB2-1; KRT81; KRTHB1; MLN137
UniProt ID: (Human) Q14533
Entrez Gene ID: (Human) 3887
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