LMX1B

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]

Description

LIM homeobox transcription factor 1 beta

Tissue specificity

Tissue enhanced (brain, salivary gland)

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

9 (126613928 - 126701032)

Ensembl ID

ENSG00000136944  (ver. 103.38)

Orthologs

Mouse Lmx1b: ENSMUSG00000038765

UniProt

O60663

neXtProt

NX_O60663

Human splice variants
Mouse splice variants

Protein structure