LMX1B (Entrez ID: 4010)

Entrez Gene ID 4010
Official Gene Symbol LMX1B (GeneCards)
Full name LIM homeobox transcription factor 1 beta
Location 9q33.3
Other ids Vega : OTTHUMG00000020692
MIM : 602575
HGNC : HGNC:6654
Ensembl : ENSG00000136944
Other names NPS1, LMX1.2
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]

Variants

Found 2 variants in this database.