RIC1 Chromosome 9
RIC1 partner of RAB6A GEF complex
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What This Gene Does
Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in several processes, including positive regulation of GTPase activity; regulation of extracellular matrix constituent secretion; and retrograde transport, endosome to Golgi. Located in cytosol and membrane. Part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
9p24.1
Ensembl
ENSG00000107036
Associated Conditions (1)
Catifa syndrome
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199560727 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763515150 | Health Risk | Conflicting classifications of pathogenicity | Catifa syndrome, Catifa syndrome |
| RS1826465235 | Health Risk | Likely pathogenic | Catifa syndrome, Catifa syndrome |