KRT34

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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