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FLASH GENE
Symbol LMX1B contributors: mct/npt - updated : 30-05-2016
HGNC name LIM homeobox transcription factor 1, beta
HGNC id 6654
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two N terminal zinc binding cysteine-rich (LIM) domains
  • an helix-turn-helix homeobox DNA binding domain
  • C terminal glutamine-rich region
    • HOMOLOGY
    intraspecies homolog to LMX1A gene
    Homologene
    FAMILY
  • LIM domain homeobox family (non HOX)
    • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in dorsal-ventral limb patterning and kidney development and patterning modulator of motor axon guidance
  • essential for the specification of dorsal limb fates at the zeugopodal and autopodal level in vertebrates
  • regulation of the coordinated expression of COL4A3 and COL4A4 required for normal glomerular basal membrane morphogenesis
  • required for the differentiation and migration of neurons within the dorsal spinal cord
  • overlapping function of the LMX1A, LMX1B genes during embryonic CNS development
  • LMX1A and LMX1B cooperate with FOXA2 to coordinate the specification of dopaminergic neurons and control of floor plate cell differentiation in the developing mesencephalon
  • LMX1A and LMX1B function cooperatively to regulate proliferation, specification, and differentiation of mDA (midbrain dopaminergic neurons) progenitors, including their floor plate-like properties
  • is essential for the development of the isthmic organizer and mesodiencephalic dopaminergic neurons
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • a complex transcriptional machinery which may include LDB1
  • intermediate factor in NKX2-2 mediated early specification of serotonic (5-HT) neurons
  • bound to 2 AT-rich sequences in the promoter region of NPHS2
  • interacting with PAX2(gene modifier in NPS1)
  • OTX2 Requires LMX1B to control the development of mesodiencephalic dopaminergic neurons
  • LDB1 and LMX1B function cooperatively to regulate mid- and hindbrain development
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPS1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • dorsoventral limb patterning
  • Lmx1a/Lmx1b compound-null mutants fail to generate hindbrain roof plate
  • adult mice with an Lmx1b loss restricted to Hoxb8 neurons have nociception defects and disrupted organization of primary sensory afferent axons innervating the dorsal horn