Secreted LY6/PLAUR Domain-Containing Protein 1

Alternative Names

SLURP1
Secreted LY6/UPAR-Related Protein 1
ARS Component B
ARS Component B-81/S Precursor

Length

1,458 bases

No. of Exons

No. of isoforms

Protein Name

Secreted Ly-6/uPAR-Related Protein 1

Molecular Mass

11186 Da

Amino Acid Count

103

Genomic Location

chr8:142,740,948-142,742,405

Gene Map Locus

8q24.3

Description

Mutations in the secreted leukocyte antigen-6 (Ly6)/urokinase-type plasminogen activator (uPAR)-related protein gene, also known as SLURP1, cause Mal de Meleda. Mal de Meleda is a rare autosomal recessive disorder characterized by diffuse transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities.

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_020427.3:c.178+1G>A	Algeria	chr8:142741802	Pathogenic	Pathogenic	Mal de Meleda	NG_011494.1:g.5610G>A; NM_020427.3:c.178+1G>A	587776602	4600
NM_020427.3:c.1A>C	United Arab Emirates	NC_000008.11:g.142742385T>G	Pathogenic	Pathogenic	Mal de Meleda	NG_011494.1:g.5027A>C; NM_020427.3:c.1A>C; NP_065160.1:p.Met1?	28937889	4604
NM_020427.3:c.229T>C	Tunisia	chr8:142741226	Pathogenic	Pathogenic	Mal de Meleda	NG_011494.1:g.6186T>C; NM_020427.3:c.229T>C; NP_065160.1:p.Cys77Arg	121908319	4606
NM_020427.3:c.256G>A	Palestine	chr8:142741199	Pathogenic	Pathogenic	Mal de Meleda	NG_011494.1:g.6213G>A; NM_020427.3:c.256G>A; NP_065160.1:p.Gly86Arg	28937888	4602
NM_020427.3:c.296G>A	Tunisia	chr8:142741159	Pathogenic	Pathogenic	Mal de Meleda	NG_011494.1:g.6253G>A; NM_020427.3:c.296G>A; NP_065160.1:p.Cys99Tyr	121908320	4607
NM_020427.3:c.82del	Algeria; Tunisia	chr8:142741899	Pathogenic	Pathogenic	Mal de Meleda	NG_011494.1:g.5513del; NM_020427.3:c.82del; NP_065160.1:p.Cys28fs	587776601	4599

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External Links

https://medlineplus.gov/genetics/gene/slurp1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLURP1

Contributors

Ghazi O. Tadmouri: 03.04.2008
Ghazi O. Tadmouri: 17.11.2004

Edit History

Sayeeda Hana: 06.10.2020
Tasneem Obeid: 17.04.2008
Tasneem Obeid: 03.04.2008
Sarah Al-Haj Ali: 04.12.2004
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004
Ghazi O. Tadmouri: 23.08.2004
Ghazi O. Tadmouri: 28.02.2004

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