RSPO1 Chromosome 1
R-spondin 1
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What This Gene Does
This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
R-spondin family
Locus Type
gene with protein product
Location
1p34.3
Ensembl
ENSG00000169218
Associated Conditions (4)
Inborn genetic diseases
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
RSPO1-related disorder
Palmoplantar hyperkeratosis and true hermaphroditism
Key Variants
RS182482113
Conflicting classifications of pathogenicity
Health Risk
RS200020734
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2522603990
Likely pathogenic
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome, RSPO1-related disorder, Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Health Risk
RS1570099690
Pathogenic
Palmoplantar hyperkeratosis and true hermaphroditism, Palmoplantar hyperkeratosis and true hermaphroditism
Health Risk
RS2148163144
Pathogenic
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome, Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS182482113 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200020734 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2522603990 | Health Risk | Likely pathogenic | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome, RSPO1-related disorder, Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome |
| RS1570099690 | Health Risk | Pathogenic | Palmoplantar hyperkeratosis and true hermaphroditism, Palmoplantar hyperkeratosis and true hermaphroditism |
| RS2148163144 | Health Risk | Pathogenic | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome, Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome |