SVBP small vasohibin binding protein
Gene ID: 374969, updated on 5-Mar-2024Gene type: protein coding
Also known as: CCDC23; NEDAHM
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- Go to complete Gene record for SVBP
- Go to Variation Viewer for SVBP variants
Summary
Enables microtubule binding activity. Involved in axon development; proteolysis; and regulation of metallopeptidase activity. Acts upstream of or within negative regulation of endothelial cell migration; negative regulation of protein ubiquitination; and protein secretion. Located in apical part of cell. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly | not available |
Genomic context
- Location:
- 1p34.2
- Sequence:
- Chromosome: 1; NC_000001.11 (42807052..42817397, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SVBP 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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