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.
^Rogers MA, Nischt R, Korge B, Krieg T, Fink TM, Lichter P, Winter H, Schweizer J (Nov 1995). "Sequence data and chromosomal localization of human type I and type II hair keratin genes". Exp Cell Res220 (2): 357–62. doi:10.1006/excr.1995.1326. PMID7556444.
Tomasetto C, Régnier C, Moog-Lutz C, et al. (1996). "Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17.". Genomics28 (3): 367–76. doi:10.1006/geno.1995.1163. PMID7490069.
Winter H, Rogers MA, Gebhardt M, et al. (1998). "A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.". Hum. Genet.101 (2): 165–9. doi:10.1007/s004390050607. PMID9402962.
Bowden PE, Hainey SD, Parker G, et al. (1998). "Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle.". J. Invest. Dermatol.110 (2): 158–64. doi:10.1046/j.1523-1747.1998.00097.x. PMID9457912.
Winter H, Labrèze C, Chapalain V, et al. (1998). "A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.". J. Invest. Dermatol.111 (1): 169–72. doi:10.1046/j.1523-1747.1998.00234.x. PMID9665406.
Rogers MA, Winter H, Langbein L, et al. (2000). "Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain.". J. Invest. Dermatol.114 (3): 464–72. doi:10.1046/j.1523-1747.2000.00910.x. PMID10692104.
Nishikawa J, Kiss C, Imai S, et al. (2003). "Upregulation of the truncated basic hair keratin 1(hHb1-DeltaN) in carcinoma cells by Epstein-Barr virus (EBV).". Int. J. Cancer107 (4): 597–602. doi:10.1002/ijc.11289. PMID14520698.