Dnaj heat shock protein family (hsp40) member c12

DnaJ Heat Shock Protein Family (Hsp40) Member C12 is a protein that in humans is encoded by the DNAJC12 gene. This protein is a member of the DnaJ heat shock protein family, also known as the Hsp40 family. The Hsp40 family is a large and diverse group of proteins that play a crucial role in protein homeostasis.

Function

The DnaJ/Hsp40 family is characterized by a highly conserved DnaJ domain that can stimulate the ATPase activity of Hsp70s, a group of heat shock proteins. The DNAJC12 protein, as a member of this family, is thought to function in protein folding and protein degradation. It is involved in the regulation of protein homeostasis and protects cells from thermal or oxidative stress.

Structure

The DNAJC12 protein is a small protein of approximately 25 kDa. It contains a J domain at its N-terminus, which is characteristic of the DnaJ/Hsp40 family. The J domain is followed by a glycine/phenylalanine (G/F)-rich region, a cysteine-rich region, and a C-terminal domain.

Clinical Significance

Mutations in the DNAJC12 gene have been associated with hyperphenylalaninemia, a rare inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners.

See Also

• Heat shock protein
• DnaJ domain
• ATPase
• Hyperphenylalaninemia