ERLIN1

Chr 10

ER lipid raft associated 1

Also known as: C10orf69, Erlin-1, KE04, KEO4, SPFH1, SPG62

NCBI Gene: 10613 ENSG00000107566 UniProt: O75477

ERLIN1 encodes a protein that mediates endoplasmic reticulum-associated degradation of inositol 1,4,5-trisphosphate receptors and regulates cellular cholesterol homeostasis through the SREBP signaling pathway. Mutations cause spastic paraplegia 62, an autosomal recessive disorder affecting the pyramidal motor system. The gene shows moderate tolerance to loss-of-function variants (LOEUF 0.539).

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic paraplegia 62, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)

hereditary spastic paraplegia 62 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.54

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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