KRT85 gene

keratin 85

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Ectodermal dysplasia, 'pure' hair-nail type

From UniProt:

Ectodermal dysplasia 4, hair/nail type (ECTD4): A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive. [MIM:602032]

Cytogenetic Location: 12q13, which is the long (q) arm of chromosome 12 at position 13

Molecular Location: base pairs 52,360,006 to 52,367,525 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q13, which is the long (q) arm of chromosome 12 at position 13
  • ECTD4
  • Hb-5
  • HB5
  • hHb5
  • K85
  • KRTHB5