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LAMP2 lysosomal associated membrane protein 2

Also known as: LAMPB; CD107b; LAMP-2; LGP110

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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Danon disease
MedGen: C0878677OMIM: 300257GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-03)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-03)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xq24
Sequence:
Chromosome: X; NC_000023.11 (120426148..120469349, complement)
Total number of exons:
10

Links

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