SLURP1 Chromosome 8
Secreted LY6/PLAUR domain containing 1
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What This Gene Does
The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
LY6/PLAUR domain containing
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000126233
Associated Conditions (1)
Acroerythrokeratoderma
Key Variants
RS587771241
Conflicting classifications of pathogenicity
Acroerythrokeratoderma, Acroerythrokeratoderma
Health Risk
RS62636565
Conflicting classifications of pathogenicity
Acroerythrokeratoderma, Acroerythrokeratoderma
Health Risk
RS1057517823
Likely pathogenic
Health Risk
RS1324633355
Likely pathogenic
Acroerythrokeratoderma, Acroerythrokeratoderma
Health Risk
RS200727790
Likely pathogenic
Health Risk
RS28937889
Likely pathogenic
Acroerythrokeratoderma, Acroerythrokeratoderma
Health Risk
RS121908317
Pathogenic
Acroerythrokeratoderma, Acroerythrokeratoderma
Health Risk
RS121908318
Pathogenic
Acroerythrokeratoderma, Acroerythrokeratoderma
Health Risk
RS121908319
Pathogenic
Acroerythrokeratoderma, Acroerythrokeratoderma
Health Risk
RS121908320
Pathogenic
Acroerythrokeratoderma, Acroerythrokeratoderma
Health Risk
RS2488555660
Pathogenic
Acroerythrokeratoderma, Acroerythrokeratoderma
Health Risk
RS28937888
Pathogenic
Acroerythrokeratoderma, Acroerythrokeratoderma, Acroerythrokeratoderma
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587771241 | Health Risk | Conflicting classifications of pathogenicity | Acroerythrokeratoderma, Acroerythrokeratoderma |
| RS62636565 | Health Risk | Conflicting classifications of pathogenicity | Acroerythrokeratoderma, Acroerythrokeratoderma |
| RS1057517823 | Health Risk | Likely pathogenic | — |
| RS1324633355 | Health Risk | Likely pathogenic | Acroerythrokeratoderma, Acroerythrokeratoderma |
| RS200727790 | Health Risk | Likely pathogenic | — |
| RS28937889 | Health Risk | Likely pathogenic | Acroerythrokeratoderma, Acroerythrokeratoderma |
| RS121908317 | Health Risk | Pathogenic | Acroerythrokeratoderma, Acroerythrokeratoderma |
| RS121908318 | Health Risk | Pathogenic | Acroerythrokeratoderma, Acroerythrokeratoderma |
| RS121908319 | Health Risk | Pathogenic | Acroerythrokeratoderma, Acroerythrokeratoderma |
| RS121908320 | Health Risk | Pathogenic | Acroerythrokeratoderma, Acroerythrokeratoderma |
| RS2488555660 | Health Risk | Pathogenic | Acroerythrokeratoderma, Acroerythrokeratoderma |
| RS28937888 | Health Risk | Pathogenic | Acroerythrokeratoderma, Acroerythrokeratoderma, Acroerythrokeratoderma |
| RS587776601 | Health Risk | Pathogenic | Acroerythrokeratoderma, Acroerythrokeratoderma |
| RS587776602 | Health Risk | Pathogenic | Acroerythrokeratoderma, Acroerythrokeratoderma |