Aliases for LMX1B Gene
External Ids for LMX1B Gene
Previous HGNC Symbols for LMX1B Gene
Previous GeneCards Identifiers for LMX1B Gene
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]
GeneCards Summary for LMX1B Gene
LMX1B (LIM Homeobox Transcription Factor 1 Beta) is a Protein Coding gene. Diseases associated with LMX1B include Nail-Patella Syndrome and Focal Segmental Glomerulosclerosis 10. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is LMX1A.
UniProtKB/Swiss-Prot Summary for LMX1B Gene
Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.