ASB15

Chr 7

ankyrin repeat and SOCS box containing 15

NCBI Gene: 142685 ENSG00000146809 UniProt: Q8WXK1

The ASB15 protein functions as a substrate-recognition component of E3 ubiquitin ligase complexes that target specific proteins for degradation through the ubiquitin-proteasome system. Mutations in ASB15 cause neurodevelopmental disorders with intellectual disability, typically presenting in early childhood with developmental delays and neurological features. The gene shows autosomal recessive inheritance and is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.29

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)