MCF2L Chromosome 13
MCF.2 cell line derived transforming sequence like
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What This Gene Does
This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs|Spectrin repeat containing|CRAL-TRIO lipid binding domain containing"
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000126217
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138339540 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148787300 | Health Risk | Conflicting classifications of pathogenicity | — |