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Article

Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.

Genomics - 1 Nov 1997

Odermatt A, Taschner P E, Scherer S W, Beatty B, Khanna V K, Cornblath D R, Chaudhry V, Yee W C, Schrank B, Karpati G, Breuning M H, Knoers N, MacLennan D H

Abstract excerpt

Sarcolipin (SLN) is a low-molecular-weight protein that copurifies with the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase (SERCA1). Genomic DNA and cDNA encoding human sarcolipin (SLN) were isolated and characterized and the SLN gene was mapped to chromosome 11q22-q23. Human, rab...

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Source

Identifiers

PMID: 9367679
DOI: 10.1006/geno.1997.4967

Genes

SLN
PLN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9367679-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.PMID 9367679Read ↗

Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation.Semantic proximity Read ↗

The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease.Semantic proximity Read ↗

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease.Semantic proximity Read ↗

The porcine sarcolipin (SLN) gene: identification of an SNP and linkage mapping to chromosome 9.Semantic proximity Read ↗

Increased sarcolipin expression and decreased sarco(endo)plasmic reticulum Ca2+ uptake in skeletal muscles of mouse models of Duchenne muscular dystrophySemantic proximity Read ↗

Sarco(endo)plasmic reticulum calcium pumps: recent advances in our understanding of structure/function and biology (review).Semantic proximity Read ↗

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.Semantic proximity Read ↗

Sarcolipin protein interaction with sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA) is distinct from phospholamban protein, and only sarcolipin can promote uncoupling of the SERCA pump.Semantic proximity Read ↗

Heterozygous deletion of sarcolipin maintains normal cardiac function.Semantic proximity Read ↗

Enhanced Ca2+ transport and muscle relaxation in skeletal muscle from sarcolipin-null mice.Semantic proximity Read ↗

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.Semantic proximity Read ↗

Structure of the rabbit phospholamban gene, cloning of the human cDNA, and assignment of the gene to human chromosome 6Semantic proximity Read ↗

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