ASB3

Chr 2

ankyrin repeat and SOCS box containing 3

Also known as: ASB-3

NCBI Gene: 51130 ENSG00000115239 UniProt: Q9Y575 OMIM: 605760

The ASB3 protein functions as a substrate-recognition component of an E3 ubiquitin ligase complex that targets specific proteins including TNFRSF1B, MAVS, and TRAF6 for proteasomal degradation, playing a role in regulating antiviral innate immunity. Mutations in ASB3 cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and developmental regression. The gene shows tolerance to loss-of-function variation, consistent with a recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.90

LOEUF

GOF

Mechanism· predicted