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Gene : KRT81 Homo sapiens

Name  ? keratin 81 Cytological Location  12q13.13
Brief Description  keratin 81
Description  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]
  • synonyms:
  • hHAKB2-1,
  • ghHkb1,
  • Hb-1,
  • KRTHB1,
  • hard keratin type II 1,
  • KRT81,
  • X81420,
  • keratin, hair, basic, 1,
  • MLN137,
  • OTTHUMG00000167574,
  • keratin 81, type II,
  • HB1,
  • NM_002281,
  • KRTHB1,
  • uc001sab.4,
  • HGNC:6458,
  • Hb-1
  • identifiers:
  • 3887,
  • ENSG00000205426,
  • KRT81

Genome feature

Region: gene ? Length: 5622  
Location: 12:52285913-52291534 reverse strand Cyto location: 12q13.13


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Disease

1 Diseases

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3756 SN Ps

5 Cross References

18 Data Sets

41 Homologues

0 Located Features

97 Rna Seq Results