SPIRE1

Chr 18

spire type actin nucleation factor 1

Also known as: Spir-1

NCBI Gene: 56907 ENSG00000134278 UniProt: Q08AE8 OMIM: 609216

SPIRE1 encodes an actin nucleation factor that organizes the actin cytoskeleton, facilitates intracellular vesicle transport, enables asymmetric cell division during meiosis, and promotes nuclear actin filament assembly for DNA damage repair. Mutations cause autosomal recessive oocyte maturation defect, characterized by female infertility due to impaired meiosis and polar body extrusion. The gene is highly constrained against loss-of-function variants, indicating critical biological importance.

OMIM ResearchSummary from RefSeq, UniProt

Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]

OMIM 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)

—

P/LP submissions

—

P/LP missense

0.46

LOEUF

Multiple*

Mechanism· predicted