Entrez gene ID | | 3887 |
Official gene symbol | | KRT81 |
Full name | | keratin 81 |
Aliases | | ,HB1,Hb-1,KRTHB1,MLN137,ghHkb1,hHAKB2-1, |
Gene 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] |
Location | | Chromosome: 12 Locus: 12q13 |
Gene position | | 52685299 - 52679697 Map Viewer |
Gene orientation | | minus |
Gene size | | 5603 bp |
Gene sequence |
| |
OMIM ID | | 602153 |
|