Home > Gene Browser > ARL6IP5

ARL6IP5

Synonyms
DERP11, GTRAP3-18, HSPC127, JWA, PRAF3, Yip6b, addicsin, hp22, jmx
External resources
Summary
Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,896
Likely benign
547
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ARL6IP5 gene.

Phenotype class
Patients in 3billion (%)

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