ERLIN1 Chromosome 10
ER lipid raft associated 1
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What This Gene Does
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]
Gene Info
Gene Group
Small nucleolar RNA protein coding host genes
Locus Type
gene with protein product
Location
10q24.31
Ensembl
ENSG00000107566
Associated Conditions (3)
Hereditary spastic paraplegia
Hereditary spastic paraplegia 62
Juvenile amyotrophic lateral sclerosis
Key Variants
RS143495333
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia 62, Hereditary spastic paraplegia
Health Risk
RS201208911
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 62, Hereditary spastic paraplegia, Hereditary spastic paraplegia 62
Health Risk
RS373926474
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia 62, Hereditary spastic paraplegia
Health Risk
RS759786446
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 62, Hereditary spastic paraplegia, Hereditary spastic paraplegia 62
Health Risk
RS876657413
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 62, Hereditary spastic paraplegia, Hereditary spastic paraplegia 62
Health Risk
RS2134100639
Likely pathogenic
Hereditary spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS1844420892
Pathogenic
Juvenile amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis
Health Risk
RS2492926235
Pathogenic
Hereditary spastic paraplegia 62, Hereditary spastic paraplegia 62
Health Risk
RS876661322
Pathogenic
Hereditary spastic paraplegia 62, Hereditary spastic paraplegia 62
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143495333 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 62, Hereditary spastic paraplegia |
| RS201208911 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 62, Hereditary spastic paraplegia, Hereditary spastic paraplegia 62 |
| RS373926474 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 62, Hereditary spastic paraplegia |
| RS759786446 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 62, Hereditary spastic paraplegia, Hereditary spastic paraplegia 62 |
| RS876657413 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 62, Hereditary spastic paraplegia, Hereditary spastic paraplegia 62 |
| RS2134100639 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS1844420892 | Health Risk | Pathogenic | Juvenile amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis |
| RS2492926235 | Health Risk | Pathogenic | Hereditary spastic paraplegia 62, Hereditary spastic paraplegia 62 |
| RS876661322 | Health Risk | Pathogenic | Hereditary spastic paraplegia 62, Hereditary spastic paraplegia 62 |