PPP4R1

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Description

The PPP4R1 (protein phosphatase 4 regulatory subunit 1) is a protein-coding gene located on chromosome 18.

PPP4R1 (Serine/threonine-protein phosphatase 4 regulatory subunit 1) is an enzyme encoded by the PPP4R1 gene in humans.

PPP4R1 is a regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). It may play a role in cell division regulation in kidney glomeruli. The PPP4C-PPP4R1 complex is thought to be involved in dephosphorylation and regulation of HDAC3.

PPP4R1 is also known as MEG1, PP4(Rmeg), PP4R1.

Associated Diseases

• Parkinson disease
• multiple sclerosis
• Alzheimer disease
• lysosomal storage disease
• type 2 diabetes mellitus
• cancer
• osteomesopyknosis
• osteosclerosis-ichthyosis-premature ovarian failure syndrome
• dacryocystitis-osteopoikilosis syndrome
• familial hyperprolactinemia
• ghosal hematodiaphyseal dysplasia
• melorheostosis
• male infertility with teratozoospermia due to single gene mutation