CNTN5 Chromosome 11
Contactin 5
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What This Gene Does
The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"I-set domain containing|Contactins"
Locus Type
gene with protein product
Location
11q22.1
Ensembl
ENSG00000149972
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200782641 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS56122118 | Health Risk | Conflicting classifications of pathogenicity | — |