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SGPL1

Sphingosine-1-phosphate lyase 1 is an enzyme that, in humans, is encoded by the SGPL1 gene.

Pathology

A mutation in the gene can lead to sphingosine phosphate lyase insufficiency syndrome, which can cause steroid-resistant nephrotic syndrome with multisystemic manifestations, as such as ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects.

References

Further reading