LMX1A LIM homeobox transcription factor 1 alpha
Gene ID: 4009, updated on 19-Sep-2024Gene type: protein coding
Also known as: LMX1; DFNA7; LMX1.1
- See all available tests in GTR for this gene
- Go to complete Gene record for LMX1A
- Go to Variation Viewer for LMX1A variants
Summary
This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study. GeneReviews: Not available | |
| Autosomal dominant nonsyndromic hearing loss 7 | See labs |
| Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. GeneReviews: Not available |
Genomic context
- Location:
- 1q23.3
- Sequence:
- Chromosome: 1; NC_000001.11 (165201867..165356715, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LMX1A 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
- 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.