Entrez gene ID | | 4010 |
Official gene symbol | | LMX1B |
Full name | | LIM homeobox transcription factor 1, beta |
Aliases | | ,LMX1.2,MGC138325,MGC142051,NPS1, |
Gene 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] |
Location | | Chromosome: 9 Locus: 9q34 |
Gene position | | 129376722 - 129463311 Map Viewer |
Gene orientation | | plus |
Gene size | | 86590 bp |
Gene sequence |
| |
OMIM ID | | 602575 |
|