ARV1

Chr 1q42.2

ARV1 fatty acid homeostasis modulator

MANE:: ENST00000310256.7

OMIM: 611647 ↗NCBI: 64801 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ARV1 · Q9H2C2

v62025-08-01

Predicted Aligned Error matrix for ARV1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.1/ 100

Confident

271 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)27%
Low(50–70)11%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

genetic developmental and epileptic encephalopathy
0.64
hereditary disease
0.47
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
0.37
3-methylglutaconic aciduria, type VIIB
0.37
Abnormality of the nervous system
0.27
Blindness
0.26
Neurodegeneration
0.26
sialadenitis
0.25
lacrimal apparatus disorder
0.25
hypertensive disorder
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein ARV1

Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis (PubMed:11063737, PubMed:12145310, PubMed:20663892). Participates in sterol transport out of the ER and distribution into plasma membranes (PubMed:20663892)