Also known as S1PL, SPL, sphingosine-1-phosphate lyase 1
Sphingosine-1-phosphate lyase 1 is an enzyme that, in humans, is encoded by the SGPL1 gene.
Enables sphinganine-1-phosphate aldolase activity. Involved in apoptotic signaling pathway; fatty acid metabolic process; and sphingolipid metabolic process. Located in endoplasmic reticulum. Implicated in nephrotic syndrome type 14. [provided by Alliance of Genome Resources, Apr 2022]
via MyGene.info
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.
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).