ASB18

Chr 2

ankyrin repeat and SOCS box containing 18

Also known as: ASB-18

NCBI Gene: 401036 ENSG00000182177 UniProt: Q6ZVZ8 OMIM: 621134

The protein functions as a substrate-recognition component of an E3 ubiquitin-protein ligase complex that targets proteins for degradation through the ubiquitin-proteasome system. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and progressive microcephaly. The gene shows minimal constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected patients.

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 a 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. [provided by RefSeq, Feb 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.64

LOEUF

GOF

Mechanism· predicted