UBL4A

Chr X

ubiquitin like 4A

Also known as: DX254E, DXS254E, GDX, GET5, MDY2, TMA24, UBL4

NCBI Gene: 8266 ENSG00000102178 UniProt: P11441 OMIM: 312070

UBL4A encodes a component of the BAG6/BAT3 cytosolic protein quality control complex that maintains misfolded proteins in a soluble state and mediates proper delivery of tail-anchored proteins to the endoplasmic reticulum or directs them to proteasomal degradation. Mutations cause autosomal dominant intellectual disability through a dominant-negative mechanism. The protein is relatively tolerant to loss-of-function variants based on constraint metrics.

OMIM ResearchSummary from RefSeq, UniProt, Mechanism

Enables protein-folding chaperone binding activity. Involved in establishment of protein localization to membrane; regulation of protein stability; and ubiquitin-dependent protein catabolic process. Located in cytosol; membrane; and nucleoplasm. Part of BAT3 complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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)

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P/LP submissions

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P/LP missense

1.18

LOEUF

Mechanism· predicted