ROBO1 roundabout guidance receptor 1
Gene ID: 6091, updated on 10-Oct-2024Gene type: protein coding
Also known as: NORS; NYS8; SAX3; CPHD8; DUTT1
- See all available tests in GTR for this gene
- Go to complete Gene record for ROBO1
- Go to Variation Viewer for ROBO1 variants
Summary
Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies protein quantitative trait loci (pQTLs). GeneReviews: Not available | |
| A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. GeneReviews: Not available | |
| Genome-wide association study of liver enzymes in korean children. GeneReviews: Not available | |
| Neurooculorenal syndrome | not available |
| Nystagmus, congenital, autosomal recessive | not available |
| Pituitary hormone deficiency, combined or isolated, 8 | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2018-09-25) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 3p12.3
- Sequence:
- Chromosome: 3; NC_000003.12 (78597239..79767998, complement)
- Total number of exons:
- 35
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ROBO1 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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