LMX1B LIM homeobox transcription factor 1 beta
Gene ID: 4010, updated on 2-Nov-2024Gene type: protein coding
Also known as: NPS1; FSGS10; LMX1.2
- See all available tests in GTR for this gene
- Go to complete Gene record for LMX1B
- Go to Variation Viewer for LMX1B variants
Summary
This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. GeneReviews: Not available | |
| Nail-patella syndrome | not available |
| Nail-patella-like renal disease | not available |
| Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-11-10) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-11-10) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 9q33.3
- Sequence:
- Chromosome: 9; NC_000009.12 (126613928..126701032)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LMX1B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LMX1B database
- 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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