LMX1B

LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein which in humans is encoded by the LMX1B gene.^[5][6]

LMX1B
Identifiers
Aliases	LMX1B, LMX1.2, NPS1, LIM homeobox transcription factor 1 beta, FSGS10
External IDs	OMIM: 602575; MGI: 1100513; HomoloGene: 55648; GeneCards: LMX1B; OMA:LMX1B - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q33.3 Start 126,613,928 bp[1] End 126,701,032 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 B|2 22.48 cM Start 33,450,977 bp[2] End 33,530,620 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve testicle gonad skin of leg right auricle of heart human kidney skin of abdomen apex of heart olfactory zone of nasal mucosa substantia nigra Top expressed in lumbar subsegment of spinal cord hand central gray substance of midbrain lacrimal gland genital tubercle foot digit renal corpuscle finger surface ectoderm More reference expression data BioGPS n/a
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding protein binding metal ion binding RNA polymerase II general transcription initiation factor activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process multicellular organism development dopaminergic neuron differentiation in utero embryonic development regulation of transcription, DNA-templated dorsal/ventral pattern formation transcription, DNA-templated neuron differentiation positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4010 16917 Ensembl ENSG00000136944 ENSMUSG00000038765 UniProt O60663 O88609 RefSeq (mRNA) NM_002316 NM_001174146 NM_001174147 NM_010725 RefSeq (protein) NP_001167617 NP_001167618 NP_002307 NP_034855 Location (UCSC) Chr 9: 126.61 – 126.7 Mb Chr 2: 33.45 – 33.53 Mb PubMed search [3] [4]
Wikidata
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Function

LMX1B is a LIM homeobox transcription factor which plays a central role in dorso-ventral patterning of the vertebrate limb.^[7]

Clinical significance

Loss-of-function mutations in the LMX1B gene are associated with Nail-patella syndrome.^[8]