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 Res. 220 (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.". Genomics. 28 (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. Cancer. 107 (4): 597–602. doi:10.1002/ijc.11289. PMID14520698.