LRRK1 leucine rich repeat kinase 1
Gene ID: 79705, updated on 17-Jun-2024Gene type: protein coding
Also known as: OSMD; RIPK6; Roco1
- See all available tests in GTR for this gene
- Go to complete Gene record for LRRK1
- Go to Variation Viewer for LRRK1 variants
Summary
This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking a similar gene showed severe osteopetrosis, increased bone mineralization and decreased bone resorption. [provided by RefSeq, Jan 2017]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. GeneReviews: Not available | |
Osteosclerotic metaphyseal dysplasia | See labs |
Genomic context
- Location:
- 15q26.3
- Sequence:
- Chromosome: 15; NC_000015.10 (100919357..101078257)
- Total number of exons:
- 34
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for LRRK1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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