rs187725533

This variant is located in the CREB3L1 gene.

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ClinVar annotation

Conflicting Classifications
6 submitters2 publications

not provided; Osteogenesis imperfecta type 16; CREB3L1-related disorder

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About CREB3L1

The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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