PPP1CB

Chr 2AD

protein phosphatase 1 catalytic subunit beta

Also known as: HEL-S-80p, MP, NSLH2, PP-1B, PP1B, PP1Cbeta, PP1Cdelta, PP1beta

NCBI Gene: 5500 ENSG00000213639 UniProt: P62140 OMIM: 600590

The protein is a catalytic subunit of protein phosphatase 1 that dephosphorylates numerous cellular targets and is essential for cell division, glycogen metabolism, muscle contractility, synaptic plasticity, and MAPK pathway regulation. Mutations cause Noonan syndrome-like disorder with loose anagen hair 2 with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants (pLI 0.999, LOEUF 0.147), indicating that functional copies are critical for normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Noonan syndrome-like disorder with loose anagen hair 2MIM #617506

Clinical highlights

Gene-disease validity (ClinGen)

Noonan syndrome-like disorder with loose anagen hair · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.15

LOEUF· LoF intol.

LOF

Mechanism· predicted