LMX1B

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) Band 9q33.3 Start 126,613,928 bp End 126,701,032 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 B|2 22.48 cM Start 33,450,977 bp End 33,530,620 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve testicle gonad skin of leg right auricle 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
Wikidata
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LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein which in humans is encoded by the LMX1B gene.

Function

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

Clinical significance

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

Further reading

• Millá E, Hernan I, Gamundi MJ, et al. (2007). "Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma". Mol. Vis. 13: 639–48. PMC 2669506. PMID 17515884.
• Oshimo T, Fukai K, Higashi N, et al. (2008). "A novel LMX1B nonsense mutation in a family with nail-patella syndrome". J. Dermatol. Sci. 52 (1): 57–60. doi:10.1016/j.jdermsci.2008.04.014. PMID 18562181.
• Ham JH, Shin SJ, Joo KR, et al. (2009). "A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome". The Korean Journal of Internal Medicine. 24 (3): 274–8. doi:10.3904/kjim.2009.24.3.274. PMC 2732789. PMID 19721866.
• Prichard ZM, Jorm AF, Mackinnon A, Easteal S (2007). "Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits". Psychiatr. Genet. 17 (5): 299–303. doi:10.1097/YPG.0b013e32816ebc9e. hdl:1885/34438. PMID 17728669. S2CID 10358616.
• Dunston JA, Lin S, Park JW, et al. (2005). "Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome". Ann. Hum. Genet. 69 (Pt 1): 1–8. doi:10.1046/j.1529-8817.2004.00133.x. PMID 15638822. S2CID 9205742.
• Bongers EM, de Wijs IJ, Marcelis C, et al. (2008). "Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man". Eur. J. Hum. Genet. 16 (10): 1240–4. doi:10.1038/ejhg.2008.83. PMID 18414507.
• Morello R, Lee B (2002). "Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes". Pediatr. Res. 51 (5): 551–8. doi:10.1203/00006450-200205000-00002. PMID 11978876.
• Zarzecki M, Nieszporek T, Chudek J, Wiecek A (2006). "[The nail-patella syndrome: rare genetically determined cause of proteinuria]". Pol. Arch. Med. Wewn. 116 (6): 1192–9. PMID 18634531.
• Rascle A, Neumann T, Raschta AS, et al. (2009). "The LIM-homeodomain transcription factor LMX1B regulates expression of NF-kappa B target genes". Exp. Cell Res. 315 (1): 76–96. doi:10.1016/j.yexcr.2008.10.012. PMID 18996370.
• Lin Y, Zhao J, Chen S, et al. (2008). "A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family". Bone. 43 (3): 591–5. doi:10.1016/j.bone.2008.04.025. PMID 18595794.
• Heidet L, Bongers EM, Sich M, et al. (2003). "In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys". Am. J. Pathol. 163 (1): 145–55. doi:10.1016/S0002-9440(10)63638-3. PMC 1868155. PMID 12819019.
• Bergman O, Híkansson A, Westberg L, et al. (2009). "Do polymorphisms in transcription factors LMX1A and LMX1B influence the risk for Parkinson's disease?". J Neural Transm. 116 (3): 333–8. doi:10.1007/s00702-009-0187-z. PMID 19189040. S2CID 12174130.
• Park S, Jamshidi Y, Vaideanu D, et al. (2009). "Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes". Invest. Ophthalmol. Vis. Sci. 50 (4): 1522–30. doi:10.1167/iovs.08-2483. PMID 18952915.
• Harendza S, Stahl RA, Schneider A (2009). "The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism". Cell. Mol. Biol. Lett. 14 (4): 679–91. doi:10.2478/s11658-009-0026-0. PMC 6275688. PMID 19562271.
• Mishima Y, Lindgren AG, Chizhikov VV, et al. (2009). "Overlapping function of Lmx1a and Lmx1b in anterior hindbrain roof plate formation and cerebellar growth". J. Neurosci. 29 (36): 11377–84. doi:10.1523/JNEUROSCI.0969-09.2009. PMC 2765661. PMID 19741143.
• Bongers EM, Huysmans FT, Levtchenko E, et al. (2005). "Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy". Eur. J. Hum. Genet. 13 (8): 935–46. doi:10.1038/sj.ejhg.5201446. PMID 15928687.
• Fuchs J, Mueller JC, Lichtner P, et al. (2009). "The transcription factor PITX3 is associated with sporadic Parkinson's disease". Neurobiol. Aging. 30 (5): 731–8. doi:10.1016/j.neurobiolaging.2007.08.014. PMID 17905480. S2CID 26905615.
• Finsterer J, Stöllberger C (2003). "LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient". Eur. Neurol. 49 (3): 186–7. doi:10.1159/000069078. PMID 12646768. S2CID 37995437.
• Marini M, Bongers EM, Cusano R, et al. (2003). "Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome". Int. J. Mol. Med. 12 (1): 79–82. doi:10.3892/ijmm.12.1.79. PMID 12792813.
• Balci S, Engiz O (2007). "Co-occurrence of familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with LMX1B mutation analysis". Genet. Couns. 18 (2): 259–62. PMID 17710881.

External links

• GeneReviews/NIH/NCBI/UW entry on Nail-Patella Syndrome
• LIM+homeobox+transcription+factor+1+beta at the U.S. National Library of Medicine Medical Subject Headings (MeSH)