NECTIN3 Chromosome 3
Nectin cell adhesion molecule 3
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What This Gene Does
This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"CD molecules|V-set domain containing|C2-set domain containing|I-set domain containing|Nectins and nectin-like molecules"
Locus Type
gene with protein product
Location
3q13.13
Ensembl
ENSG00000177707
Associated Conditions (2)
Developmental cataract
NECTIN3-related disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS79006549 | Health Risk | Conflicting classifications of pathogenicity | Developmental cataract, NECTIN3-related disorder, Developmental cataract |