ARL6IP1

Chr 16

ARL6 interacting reticulophagy regulator 1

Also known as: AIP1, ARL6IP, ARMER, SPG61

NCBI Gene: 23204ENSG00000170540UniProt: Q15041

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic paraplegia 61, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)
hereditary spastic paraplegia · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.78
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.78LOEUF
pLI 0.022
Z-score 2.15
OE 0.37 (0.19–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.07Z-score
OE missense 0.71 (0.59–0.86)
79 obs / 110.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.19–0.78)
0≤0.351.4
Missense OE?0.71 (0.59–0.86)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 5 / 13.5Missense obs/exp: 79 / 110.7Syn Z: -0.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARL6IP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients