PPP3CB
Description
The PPP3CB (protein phosphatase 3 catalytic subunit beta) is a protein-coding gene located on chromosome 10.
Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform (PP2BB) is an enzyme that in humans is encoded by the PPP3CB gene.
PPP3CB encodes a calcium-dependent, calmodulin-stimulated protein phosphatase that plays a crucial role in transmitting intracellular calcium signals. It dephosphorylates TFEB in response to lysosomal calcium release, leading to TFEB nuclear translocation and stimulating lysosomal biogenesis. It also dephosphorylates and activates the transcription factor NFATC1, while inactivating transcription factor ELK1. Additionally, it dephosphorylates DARPP32 and negatively regulates MAP3K14/NIK signaling by inhibiting nuclear translocation of the transcription factors RELA and RELB. PPP3CB may also contribute to skeletal muscle fiber type specification.
PPP3CB is also known as CALNA2, CALNB, CNA2, PP2Bbeta.
Associated Diseases
- endometrial cancer
- Alzheimer disease
- Parkinson disease
- multiple sclerosis
- lysosomal storage disease
- Okt4 epitope deficiency
- 22q11.2 deletion syndrome
- Wiskott-Aldrich syndrome
- severe combined immunodeficiency due to CARD11 deficiency
- reticular dysgenesis
- combined immunodeficiency with skin granulomas
- severe combined immunodeficiency due to IKK2 deficiency
- hyper-IgM syndrome type 3
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy
- immunodeficiency 19
- severe combined immunodeficiency due to CTPS1 deficiency
- immunodeficiency 79
- immunodeficiency 18
- immunodeficiency 66
