ROR1 Chromosome 1

Receptor tyrosine kinase like orphan receptor 1
1 variant 1 Health Risk

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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
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS777805288 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive 108, Hearing loss
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