ROR1 Chromosome 1
Receptor tyrosine kinase like orphan receptor 1
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What This Gene Does
This gene encodes a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system. The encoded protein is a glycosylated type I membrane protein that belongs to the ROR subfamily of cell surface receptors. It is a pseudokinase that lacks catalytic activity and may interact with the non-canonical Wnt signalling pathway. This gene is highly expressed during early embryonic development but expressed at very low levels in adult tissues. Increased expression of this gene is associated with B-cell chronic lymphocytic leukaemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2012]
Gene Info
Gene Group
"Receptor tyrosine kinases|I-set domain containing|Kringle domain containing"
Locus Type
gene with protein product
Location
1p31.3
Ensembl
ENSG00000185483
Associated Conditions (2)
Hearing loss
autosomal recessive 108
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS777805288 | Health Risk | Conflicting classifications of pathogenicity | Hearing loss, autosomal recessive 108, Hearing loss |