Aliases for LMX1A Gene
External Ids for LMX1A Gene
Previous HGNC Symbols for LMX1A Gene
Previous GeneCards Identifiers for LMX1A Gene
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]
GeneCards Summary for LMX1A Gene
LMX1A (LIM Homeobox Transcription Factor 1 Alpha) is a Protein Coding gene. Diseases associated with LMX1A include Deafness, Autosomal Dominant 7 and Ovarian Mucinous Cystadenocarcinoma. Among its related pathways are Dopaminergic Neurogenesis. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is LMX1B.
UniProtKB/Swiss-Prot Summary for LMX1A Gene
Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae (By similarity).