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KRT85 keratin 85

Gene ID: 3891, updated on 7-Apr-2024
Gene type: protein coding
Also known as: HB5; K85; Hb-5; hHb5; ECTD4; KRTHB5

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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Ectodermal dysplasia 4, hair/nail type
MedGen: CN029917OMIM: 602032GeneReviews: Not available
See labs
Germline genomic variants associated with childhood acute lymphoblastic leukemia.
GeneReviews: Not available

Genomic context

Location:
12q13.13
Sequence:
Chromosome: 12; NC_000012.12 (52360006..52367481, complement)
Total number of exons:
10

Links

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