PPP1R15B

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Description

PPP1R15B, also known as protein phosphatase 1 regulatory subunit 15B, is a gene that encodes a protein involved in regulating the activity of protein phosphatase 1 (PP1). PP1 is a key enzyme involved in a variety of cellular processes, including muscle contraction, glycogen metabolism, and cell growth. PPP1R15B plays a role in targeting PP1 to specific cellular locations, thus controlling its activity. Mutations in PPP1R15B have been linked to various muscle disorders, highlighting its importance in maintaining muscle function.

Associated Diseases

• Microcephaly, short stature, and impaired glucose metabolism 2

Did you know?

Mutations in PPP1R15B can lead to a wide spectrum of muscle disorders, ranging from mild to severe.