KRT34
Description
The KRT34 (keratin 34) is a protein-coding gene located on chromosome 17.
Keratin, type I cuticular Ha4 is a protein that in humans is encoded by the KRT34 gene. The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription.
KRT34 is also known as HA4, Ha-4, K34, KRTHA4, hHa4.
Associated Diseases
- esophageal cancer
- low grade glioma
- isolated congenital hypogonadotropic hypogonadism
- familial apolipoprotein C-II deficiency
- 46,XY complete gonadal dysgenesis
- hepatorenocardiac degenerative fibrosis
- proteasome-associated autoinflammatory syndrome 5
- ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- 46,XX ovotesticular disorder of sex development
- tetragametic chimerism
- progressive familial intrahepatic cholestasis
- familial lipoprotein lipase deficiency
- glycogen storage disease IXa1
