STMN3

Chr 20

stathmin 3

Also known as: SCLIP

NCBI Gene: 50861 ENSG00000197457 UniProt: Q9NZ72 OMIM: 608362

The protein destabilizes microtubules by forming complexes with tubulin dimers, disrupting normal microtubule assembly and function. Mutations in this gene cause autosomal recessive neurodevelopmental disorders characterized by intellectual disability, developmental delay, and seizures. The gene shows relatively low constraint to loss-of-function variation, which is consistent with recessive inheritance patterns.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein which is a member of the stathmin protein family. Members of this protein family form a complex with tubulins at a ratio of 2 tubulins for each stathmin protein. Microtubules require the ordered assembly of alpha- and beta-tubulins, and formation of a complex with stathmin disrupts microtubule formation and function. A pseudogene of this gene is located on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.91

LOEUF

Mechanism· predicted