RYK Chromosome 3
Receptor like tyrosine kinase
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What This Gene Does
The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding region, a single transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating Wnt signaling pathways such as the regulation of axon pathfinding. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
Receptor tyrosine kinases
Locus Type
gene with protein product
Location
3q22.2
Ensembl
ENSG00000163785
Associated Conditions (1)
RYK-related disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1425051712 | Health Risk | Conflicting classifications of pathogenicity | RYK-related disorder, RYK-related disorder |