SLURP1

Chr 8AR

secreted LY6/PLAUR domain containing 1

Also known as: ANUP, ARS, ArsB, LY6-MT, LY6LS, MDM

NCBI Gene: 57152 ENSG00000126233 UniProt: P55000 OMIM: 606119

This protein maintains the physiological and structural integrity of keratinocyte layers in the skin and modulates nicotinic acetylcholine receptor activity to regulate keratinocyte proliferation and differentiation. Mutations cause Meleda disease, a rare autosomal recessive skin disorder characterized by palmoplantar keratoderma. The gene shows relatively low constraint against loss-of-function variants (pLI 0.26, LOEUF 1.31), consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Meleda diseaseMIM #248300

UniProtMal de Meleda

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.31

LOEUF

LOF

Mechanism· G2P