RBSN Chromosome 3
Rabenosyn, RAB effector
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What This Gene Does
This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Zinc fingers FYVE-type"
Locus Type
gene with protein product
Location
3p25.1
Ensembl
ENSG00000131381
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144008665 | Health Risk | Conflicting classifications of pathogenicity | — |