rs11190414

This variant is located in the ERLIN1 gene.

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ClinVar annotation

Benign★☆☆☆

1 submitter

About ERLIN1

The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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