SGPL1 sphingosine-1-phosphate lyase 1
Gene ID: 8879, updated on 3-Nov-2024Gene type: protein coding
Also known as: SPL; RENI; S1PL; NPHS14
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- Go to complete Gene record for SGPL1
- Go to Variation Viewer for SGPL1 variants
Summary
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, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease MedGen: C0007959GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview | See labs |
| Nephrotic syndrome 14 | See labs |
Genomic context
- Location:
- 10q22.1
- Sequence:
- Chromosome: 10; NC_000010.11 (70815948..70881184)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SGPL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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