SVBP Chromosome 1
Small vasohibin binding protein
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What This Gene Does
Enables microtubule binding activity and peptidase activator 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, Jul 2025]
Associated Conditions (7)
SVBP-related disorder
Microcephaly
Intellectual disability
Lower limb spasticity
Neurodevelopmental disorder with ataxia
hypotonia
and microcephaly
Key Variants
RS2124257857
Likely pathogenic
Health Risk
RS750216083
Likely pathogenic
SVBP-related disorder, SVBP-related disorder
Health Risk
RS1570520229
Pathogenic
Microcephaly, Intellectual disability, Lower limb spasticity
Health Risk
RS1570520175
Pathogenic/Likely pathogenic
Lower limb spasticity, Microcephaly, Intellectual disability
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2124257857 | Health Risk | Likely pathogenic | — |
| RS750216083 | Health Risk | Likely pathogenic | SVBP-related disorder, SVBP-related disorder |
| RS1570520229 | Health Risk | Pathogenic | Microcephaly, Intellectual disability, Lower limb spasticity |
| RS1570520175 | Health Risk | Pathogenic/Likely pathogenic | Lower limb spasticity, Microcephaly, Intellectual disability |