BLZF1

Chr 1

basic leucine zipper nuclear factor 1

Also known as: GOLGIN-45, JEM-1, JEM-1s, JEM1

NCBI Gene: 8548 ENSG00000117475 UniProt: Q9H2G9

The BLZF1 protein is required for normal Golgi structure and protein transport from the endoplasmic reticulum through the Golgi apparatus to the cell surface. Mutations cause autosomal recessive developmental delay with progressive neurodegeneration, characterized by early-onset seizures, intellectual disability, and progressive brain atrophy. This gene shows minimal constraint against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

Enables ubiquitin protein ligase binding activity. Acts upstream of or within Golgi organization and Golgi to plasma membrane protein transport. Located in Golgi apparatus and nucleoplasm. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.01

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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