PPP4R1L
Description
The PPP4R1L (protein phosphatase 4 regulatory subunit 1 like (pseudogene)) is a pseudo gene located on chromosome 20.
PPP4R1L is a gene that encodes a regulatory subunit of protein phosphatase 4 (PP4), a serine/threonine phosphatase. PP4R1L is thought to interact with the catalytic subunit of PP4 (PP4C) to form a holoenzyme complex that is involved in the regulation of neuronal function and development. Mutations in this gene have been associated with intellectual disability.
The protein encoded by this gene is a regulatory subunit of protein phosphatase 4 (PP4), a serine/threonine phosphatase that plays a role in a variety of cellular processes, including cell cycle control, signal transduction, and neuronal development. PP4R1L is thought to interact with the catalytic subunit of PP4 (PP4C) to form a holoenzyme complex that is involved in the regulation of neuronal function and development. The gene is specifically expressed in the brain, where it is localized to the cytoplasm and nucleus of neurons. Mutations in this gene have been associated with intellectual disability.
PPP4R1L is also known as C20orf192, PPP4R1P1, PRO1085.
