SGPL1
Sign in to saveAlso 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.
Gene data
SGPL1- Name
- sphingosine-1-phosphate lyase 1
- Type
- protein-coding
- Aliases
- NPHS14, RENI, S1PL, SPL
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
Wikidata facts
- Image
- SGPL1.png
Show 5 more facts
- HomoloGene ID
- 2897
- exact match
- identifiers.org/ncbigene/8879
- genomic end
- 70881184
- genomic start
- 70815948
- cytogenetic location
- 10q22.1
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Article
3 sectionsContents
- Pathology
- References
- Further reading
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.