NTRK3 Chromosome 15
Neurotrophic receptor tyrosine kinase 3
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What This Gene Does
This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
Gene Info
Gene Group
"Receptor tyrosine kinases|I-set domain containing"
Locus Type
gene with protein product
Location
15q25.3
Ensembl
ENSG00000140538
Associated Conditions (1)
Neonatal cardiomyopathy
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147992979 | Health Risk | Conflicting classifications of pathogenicity | Neonatal cardiomyopathy, Neonatal cardiomyopathy |