NELL1 Chromosome 11
Neural EGFL like 1
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What This Gene Does
This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200601314 | Health Risk | Conflicting classifications of pathogenicity | — |