SPRED1 sprouty related EVH1 domain containing 1
Gene ID: 161742, updated on 17-Jun-2024Gene type: protein coding
Also known as: LGSS; NFLS; hSpred1; spred-1; PPP1R147
- See all available tests in GTR for this gene
- Go to complete Gene record for SPRED1
- Go to Variation Viewer for SPRED1 variants
Summary
The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Legius syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2013-03-14) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2013-03-14) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 15q14
- Sequence:
- Chromosome: 15; NC_000015.10 (38252836..38357249)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPRED1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Legius Syndrome and SPRED1
- 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SPRED1 @ LOVD
- SPRED1 database
- Variation ViewerRelated Variants
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