Gene: LAMP2

Alternate names for this Gene: CD107b|DND|LAMP-2|LAMPB|LGP-96|LGP110

Gene Summary: The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins.

Gene is located in Chromosome: X

Location in Chromosome : Xq24

Description of this Gene: lysosomal associated membrane protein 2

Type of Gene: protein-coding

rs104894857 in LAMP2 gene and Glycogen Storage Disease Type IIb PMID 15253947 2004 Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.

PMID 27678261 2016 Using whole-exome sequencing, we identified a nonsense mutation (c.520C>T, exon 4) of the LAMP2 gene in a family with Danon disease.

PMID 15673802 2005 Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

PMID 19318653 2009 Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.

PMID 18555174 2008 Danon disease: an unusual presentation of autism.

PMID 16217705 2005 We describe two cases of Danon disease with different clinical presentation, in whom we identified the same exon skipping mutation c.928G>A in the LAMP-2 gene.

PMID 19373884 2009 Danon disease: further clinical and molecular heterogeneity.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 15907287 2005 Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.

PMID 21415759 2011 Natural history of Danon disease.

PMID 15889279 2005 Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.

PMID 27179547 2016 Identification of Two Novel LAMP2 Gene Mutations in Danon Disease.

PMID 15792868 2005 Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).

PMID 18312451 2008 Cardioembolic stroke in Danon disease.

PMID 16565504 2006 Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.

PMID 18282207 2008 Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation.

PMID 25458169 2015 Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes.

PMID 21896538 2011 Genetic basis of end-stage hypertrophic cardiomyopathy.

PMID 20445193 2010 End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.

PMID 22695892 2012 Danon disease: focusing on heart.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 14598234 2003 Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease.

PMID 18061453 2008 Danon disease: a novel Lamp-2 gene mutation in a family with four affected members.

PMID 18990578 2008 Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.

PMID 22074992 2012 Sudden death associated with danon disease in women.

rs104894858 in LAMP2 gene and Hypertrophic Cardiomyopathy PMID 18555174 2008 Danon disease: an unusual presentation of autism.

PMID 19318653 2009 Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.

PMID 15673802 2005 Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

PMID 16217705 2005 Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.

PMID 19373884 2009 Danon disease: further clinical and molecular heterogeneity.

PMID 20445193 2010 End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.

PMID 21896538 2011 Genetic basis of end-stage hypertrophic cardiomyopathy.

PMID 22695892 2012 Danon disease: focusing on heart.