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KRT81 keratin 81

Also known as: HB1; Hb-1; KRTHB1; MLN137; ghHkb1; hHAKB2-1

Summary

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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Beaded hair
MedGen: C0546966OMIM: 158000GeneReviews: Not available
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Genomic context

Location:
12q13.13
Sequence:
Chromosome: 12; NC_000012.12 (52285913..52291515, complement)
Total number of exons:
9

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