rs587771241
This variant is located in the SLURP1 gene.
▶ClinVar annotation
Conflicting Classifications
2 submitters1 publicationAcroerythrokeratoderma; not provided
View on ClinVar →About SLURP1
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]
View all SLURP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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