MPZL1

Chr 1

myelin protein zero like 1

Also known as: MPZL1b, PZR, PZR1b, PZRa, PZRb

NCBI Gene: 9019 ENSG00000197965 UniProt: O95297

MPZL1 encodes a cell surface receptor that mediates signal transduction by recruiting protein tyrosine phosphatases and interacting with Src family kinases, and regulates integrin-mediated cell motility. The gene has relatively low constraint to loss-of-function variants (pLI 0.16, LOEUF 0.75), but specific disease associations and inheritance patterns have not been established in the provided data. Further clinical characterization is needed to define the phenotypic spectrum associated with MPZL1 variants.

ResearchSummary from RefSeq, UniProt

Predicted to enable structural molecule activity. Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway and cell-cell signaling. Located in cell surface and focal adhesion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

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.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.75

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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