PFDN5
Description
The PFDN5 (prefoldin subunit 5) is a protein-coding gene located on chromosome 12.
Prefoldin subunit 5 is a protein encoded by the PFDN5 gene in humans. It belongs to the prefoldin alpha subunit family and is a component of the prefoldin complex, a molecular chaperone that stabilizes newly synthesized polypeptides, facilitating their correct folding. The prefoldin complex, comprising two alpha and four beta subunits, forms a double beta barrel structure with six protruding coiled-coils. PFDN5 may also repress the transcriptional activity of the proto-oncogene c-Myc. Different isoforms of the protein are generated through alternative splicing. PFDN5 has been shown to interact with Myc.
PFDN5 specifically binds to cytosolic chaperonin (c-CPN) and transfers target proteins to it. It also binds to nascent polypeptide chains, promoting their folding in a cellular environment where numerous competing pathways exist for non-native proteins. Furthermore, PFDN5 has been shown to repress the transcriptional activity of MYC.
PFDN5 is also known as MM-1, MM1, PFD5.
Associated Diseases
- ovarian cancer
- esophageal cancer
- colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
- ataxia-hypogonadism-choroidal dystrophy syndrome
- 47,XYY syndrome
- ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
