Keratin 83, also known as KRT83, is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
which humans is encoded by the ''KRT83'' gene.
Function
The protein encoded by this gene is a member of the
keratin
Keratin () is one of a family of structural fibrous proteins also known as ''scleroproteins''. Alpha-keratin (α-keratin) is a type of keratin found in vertebrates. It is the key structural material making up Scale (anatomy), scales, hair, Nail ...
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 (
KRT81
Keratin, type II cuticular Hb1 is a protein that in humans is encoded by the ''KRT81'' gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation ...
), KRTHB3 (KRT83, this protein), and KRTHB6 (
KRT86
Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the ''KRT86'' gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generati ...
), is highly related. The other less-related subfamily includes KRTHB2 (
KRT82), KRTHB4 (
KRT84
KRT84 is a keratin gene, for a type II hair keratin Hair keratin is a type of keratin found in hair and nails. There are two types of hair keratin:
* the acidic ''type I hair keratin''
** type I hair keratin 1,
** type I hair keratin 2,
** ty ...
), and KRTHB5 (
KRT85). All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex.
Clinical significance
Mutations in the ''KRT83'' gene have been associated with
monilethrix
Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. It comes from the Latin word for necklace (''monile'') and the Greek word for hair (''thrix'' ...
.
References
Further reading
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