PFDN1
Description
The PFDN1 (prefoldin subunit 1) is a protein-coding gene located on chromosome 5.
Prefoldin subunit 1 is a protein encoded by the PFDN1 gene in humans. It belongs to the prefoldin beta subunit family and is one of six subunits that make up prefoldin, a molecular chaperone complex. Prefoldin binds and stabilizes newly synthesized polypeptides, allowing them to fold correctly. The complex consists of two alpha and four beta subunits, forming a double beta barrel structure with six protruding coiled-coils.
Prefoldin subunit 1 (PFDN1) interacts specifically with cytosolic chaperonin (c-CPN) and delivers target proteins to it. It binds to newly synthesized polypeptide chains, promoting their proper folding in a cellular environment where misfolded proteins can readily take alternative pathways.
PFDN1 is also known as PDF, PFD1.
Associated Diseases
- endometrial cancer
- isolated agammaglobulinemia
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- common variable immunodeficiency
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
