LBX1 ladybird homeobox 1
Gene ID: 10660, updated on 2-Nov-2024Gene type: protein coding
Also known as: HPX6; CCHS3; HPX-6; LBX1H; homeobox
- See all available tests in GTR for this gene
- Go to complete Gene record for LBX1
- Go to Variation Viewer for LBX1 variants
Summary
This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis. GeneReviews: Not available | |
| Central hypoventilation syndrome, congenital, 3 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2014-08-21) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2014-08-21) ClinGen Genome Curation Page |
Genomic context
- Location:
- 10q24.32
- Sequence:
- Chromosome: 10; NC_000010.11 (101226994..101229463, complement)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LBX1 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.