SHROOM3

Chr 4

shroom family member 3

Also known as: APXL3, MSTP013, SHRM, ShrmL

NCBI Gene: 57619 ENSG00000138771 UniProt: Q8TF72

This protein controls neuroepithelial cell shape changes during neural tube closure by promoting apical accumulation of F-actin and myosin II, and directing assembly of apicobasal microtubule arrays. Mutations cause neural tube defects including spina bifida and anencephaly, following an autosomal recessive inheritance pattern. The gene shows significant constraint against loss-of-function variants (LOEUF 0.35), reflecting its critical role in early nervous system development.

ResearchSummary from RefSeq, UniProt

This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.35

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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