PDZRN3

Chr 3

PDZ domain containing ring finger 3

Also known as: LNX3, SEMACAP3, SEMCAP3

NCBI Gene: 23024 ENSG00000121440 UniProt: Q9UPQ7

This gene encodes a RING-type E3 ubiquitin ligase that regulates muscle-specific kinase (MUSK) levels on muscle cells by mediating its ubiquitination and degradation, contributing to terminal muscle differentiation. Mutations cause autosomal recessive congenital myasthenic syndrome, a neuromuscular junction disorder presenting in infancy or early childhood with muscle weakness, fatigue, and respiratory difficulties. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

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

0.30

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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