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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas islet of Langerhans       Reproductive female system breast mammary gland     Urinary kidney         Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Urinary podocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text	highly, in renal development and skeletal patterning, kidney, dorsal mesenchymal tissues precursors of muscles, tendons, joints, patella and in anterior structure of the limb

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