Entrez 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].
UniProt Summary: Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.
Pfam DomainsGO Terms
Pfam Domains
Homeobox
LIM
GO Terms
dopaminergic neuron differentiation
dorsal/ventral pattern formation
RNA polymerase II regulatory region sequence-specific DNA binding
regionalization
in utero embryonic development
pattern specification process
chordate embryonic development
embryo development ending in birth or egg hatching
DNA-binding transcription factor activity
embryo development
neuron differentiation
positive regulation of transcription by RNA polymerase II
generation of neurons
positive regulation of transcription, DNA-templated