ZG16B

Chr 16

zymogen granule protein 16B

Also known as: EECP, HRPE773, JCLN2, PAUF, PRO1567

NCBI Gene: 124220 ENSG00000162078 UniProt: Q96DA0

The ZG16B protein functions as a lectin that binds carbohydrates and helps maintain oral microbiome homeostasis by capturing and regulating commensal bacteria growth. Pathogenic variants in ZG16B cause neurodevelopmental disorders with intellectual disability, seizures, and dysmorphic features, following an autosomal recessive inheritance pattern. The gene shows low constraint to loss-of-function variants (pLI 0.0003, LOEUF 1.85), suggesting tolerance to protein loss.

ResearchSummary from RefSeq, UniProt

Enables proteoglycan binding activity. Involved in several processes, including defense response to bacterium; positive regulation of angiogenesis; and positive regulation of vascular permeability. Located in apicolateral plasma membrane; cytoplasm; and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.85

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)