DYNLRB2

Chr 16

dynein light chain roadblock-type 2

Also known as: DNCL2B, DNLC2B, ROBLD2

NCBI Gene: 83657 ENSG00000168589 UniProt: Q8TF09 OMIM: 607168

DYNLRB2 encodes a non-catalytic accessory component of the cytoplasmic dynein 1 complex that links dynein to cellular cargo and regulatory adapter proteins, facilitating retrograde transport of vesicles and organelles along microtubules. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in infancy with seizures and severe developmental delays. The gene shows high constraint against loss-of-function variants (pLI = 1.00), indicating intolerance to haploinsufficiency in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in ciliary tip. Predicted to be part of cytoplasmic dynein complex. Predicted to be active in centrosome and cytoplasm. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.84

LOEUF

Multiple*

Mechanism· predicted