ARHGEF28 Chromosome 5
Rho guanine nucleotide exchange factor 28
Upload your DNA to see your personal genotypes for variants in ARHGEF28.
What This Gene Does
This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
Gene Info
Gene Group
Dbl family Rho GEFs
Locus Type
gene with protein product
Location
5q13.2
Ensembl
ENSG00000214944
Associated Conditions (2)
ARHGEF28-related disorder
Meniere disease
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61739928 | Health Risk | Conflicting classifications of pathogenicity | ARHGEF28-related disorder, Meniere disease, ARHGEF28-related disorder |