KRT83
Encyclopedia
Keratin 83, also known as KRT83, is a protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...

 which humans is encoded by the KRT83 gene.

Function

The protein encoded by this gene is a member of the keratin
Keratin
Keratin refers to a family of fibrous structural proteins. Keratin is the key of structural material making up the outer layer of human skin. It is also the key structural component of hair and nails...

 gene family. As a type II hair keratin
Type II hair keratin
Type II hair keratin is one of the two types of hair keratin. It is a basic protein which heterodimerizes with type I hair keratins to form hair and nails....

, it is a basic protein which heterodimerizes with type I keratins
Type I hair keratin
Type I hair keratin is one of the two types of hair keratin. It is an acidic protein which heterodimerizes with type II hair keratins to form hair and nails....

 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
KRT81
Keratin, type II cuticular Hb1 is a protein that in humans is encoded by the KRT81 gene.-Further reading:...

), KRTHB3 (KRT83, this protein), and KRTHB6 (KRT86
KRT86
Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene.-Further reading:...

), is highly related. The other less-related subfamily includes KRTHB2 (KRT82
KRT82
KRT82 is a keratin gene. This is a type II keratin and appears to be a hair cuticle-specific....

), KRTHB4 (KRT84
KRT84
KRT84 is a keratin gene, for a type II hair keratin contained primarily in the filiform tongue papilla....

), and KRTHB5 (KRT85
KRT85
Keratin, type II cuticular Hb5 is a protein that in humans is encoded by the KRT85 gene.-Further reading:...

). 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
Monilethrix 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 and the Greek word for hair ....

.

Further reading

The source of this article is wikipedia, the free encyclopedia.  The text of this article is licensed under the GFDL.
 
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