ARL6IP1 Chromosome 16
ARL6 interacting reticulophagy regulator 1
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What This Gene Does
This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
Associated Conditions (3)
Hereditary spastic paraplegia 61
Inborn genetic diseases
ARL6IP1-related disorder
Key Variants
RS201216108
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 61, Inborn genetic diseases, Hereditary spastic paraplegia 61
Health Risk
RS767874638
Likely pathogenic
Hereditary spastic paraplegia 61, Hereditary spastic paraplegia 61
Health Risk
RS879255572
Likely pathogenic
Hereditary spastic paraplegia 61, Hereditary spastic paraplegia 61
Health Risk
RS1428321490
Pathogenic
Hereditary spastic paraplegia 61, Hereditary spastic paraplegia 61
Health Risk
RS2506673023
Pathogenic
Hereditary spastic paraplegia 61, Hereditary spastic paraplegia 61
Health Risk
RS750623911
Pathogenic
Hereditary spastic paraplegia 61, ARL6IP1-related disorder, Hereditary spastic paraplegia 61
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201216108 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 61, Inborn genetic diseases, Hereditary spastic paraplegia 61 |
| RS767874638 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 61, Hereditary spastic paraplegia 61 |
| RS879255572 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 61, Hereditary spastic paraplegia 61 |
| RS1428321490 | Health Risk | Pathogenic | Hereditary spastic paraplegia 61, Hereditary spastic paraplegia 61 |
| RS2506673023 | Health Risk | Pathogenic | Hereditary spastic paraplegia 61, Hereditary spastic paraplegia 61 |
| RS750623911 | Health Risk | Pathogenic | Hereditary spastic paraplegia 61, ARL6IP1-related disorder, Hereditary spastic paraplegia 61 |