EPHA10 Chromosome 1
EPH receptor A10
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What This Gene Does
Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"Sterile alpha motif domain containing|EPH receptors"
Locus Type
gene with protein product
Location
1p34.3
Ensembl
ENSG00000183317
Associated Conditions (3)
Nonsyndromic Deafness
Hearing loss
autosomal dominant 88
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2524422870 | Health Risk | Pathogenic | Nonsyndromic Deafness, Hearing loss, autosomal dominant 88 |