SEMA3A

SEMAPHORIN 3A

• OMIM 603961
• Located at chromosome 7q21.11
• Encodes semaphorin 3A, a member of the semaphorin family.
• SEMA3A comprises 17 exons and the corresponding mRNA (NM_006080.2) encodes a 771 amino acid chemotropic molecule that modulates neurite growth.

Human genetics

• Mutations in SEMA3A contribute to the pathogenesis of Kallmann syndrome presumably through synergistic effects with mutant alleles of other disease-associated genes (Hanchate, Giacobini et al. 2012)

Animal models

• Mice lacking SEMA3A signaling have a defect in the targeting of vomeronasal nerves and the migration of GnRH neurons into the brain, resulting in reduced gonadal size and poor fertility (Cariboni, Davidson et al. 2011).

References

Cariboni, A., K. Davidson, et al. (2011). "Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism." Hum Mol Genet 20(2): 336-344.

Hanchate, N. K., P. Giacobini, et al. (2012). "SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome." PLoS Genet 8(8): e1002896.