rs2518473619

This variant is located in the TXLNG gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About TXLNG

This gene encodes a member of the taxilin family. The encoded protein binds to the C-terminal coiled-coil region of syntaxin family members 1A, 3A and 4A, and may play a role in intracellular vesicle trafficking. This gene is up-regulated by lipopolysaccharide and the gene product may be involved in cell cycle regulation. The related mouse protein was also shown to inhibit activating transcription factor 4-mediated transcription and thus regulate bone mass accrual. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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