What is pgap3?

PGAP3, also known as Post-GPI Attachment to Proteins 3, is a protein-coding gene that is located on the long arm of chromosome 17 in humans. It is part of the PGAP gene family, which is responsible for the post-translational modification of proteins.

PGAP3 specifically plays a role in the attachment of a glycosylphosphatidylinositol (GPI) anchor to a wide range of proteins. This anchor is important for these proteins to be attached to the cell membrane and play their necessary roles in cellular processes.

Mutations in the PGAP3 gene have been associated with intellectual disability, seizures, and other neurological disorders. These mutations can affect the proper attachment of the GPI anchor, leading to disrupted protein localization and function.

Further research into PGAP3 and the PGAP gene family may lead to a better understanding of various disorders and provide potential targets for therapeutic interventions.