Keratin 83, also known as KRT83, is a
protein which humans is encoded by the KRT83 gene.[5][6]
Function
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 (
KRT81), KRTHB3 (KRT83, this protein), and KRTHB6 (
KRT86), is highly related. The other less-related subfamily includes KRTHB2 (
KRT82), KRTHB4 (
KRT84), 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.[7]
Clinical significance
Mutations in the KRT83 gene have been associated with
monilethrix.[8]
Keratin 83, also known as KRT83, is a
protein which humans is encoded by the KRT83 gene.[5][6]
Function
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 (
KRT81), KRTHB3 (KRT83, this protein), and KRTHB6 (
KRT86), is highly related. The other less-related subfamily includes KRTHB2 (
KRT82), KRTHB4 (
KRT84), 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.[7]
Clinical significance
Mutations in the KRT83 gene have been associated with
monilethrix.[8]