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
External IDs	OMIM: 602575 MGI: 1100513 HomoloGene: 55648 GeneCards: LMX1B
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q33.3 Start 126,614,443 bp[1] End 126,701,032 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 B|2 22.48 cM Start 33,560,965 bp[2] End 33,640,511 bp[2]
Gene ontology Molecular function • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • DNA binding • sequence-specific DNA binding • RNA polymerase II regulatory region sequence-specific DNA binding • GO:0001948 protein binding • metal ion binding • GO:0000983 RNA polymerase II general transcription initiation factor activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cell 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 from RNA polymerase II promoter 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: 33.56 – 33.64 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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

Clinical significance

Mutations in the LMX1B gene are associated with the Nail-patella syndrome.[8]

References

1. GRCh38: Ensembl release 89: ENSG00000136944 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038765 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: LMX1B LIM homeobox transcription factor 1, beta".
6. Iannotti CA, Inoue H, Bernal E, Aoki M, Liu L, Donis-Keller H, German MS, Permutt MA (December 1997). "Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9". Genomics. 46 (3): 520–4. doi:10.1006/geno.1997.5075. PMID 9441763.
7. Schweizer H, Johnson RL, Brand-Saberi B (April 2004). "Characterization of migration behavior of myogenic precursor cells in the limb bud with respect to Lmx1b expression". Anat. Embryol. 208 (1): 7–18. doi:10.1007/s00429-003-0373-y. PMID 15007643. S2CID 24982408.
8. Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B (May 1998). "Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome". Nat. Genet. 19 (1): 47–50. doi:10.1038/ng0598-47. PMID 9590287. S2CID 2329971.

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. 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 US National Library of Medicine Medical Subject Headings (MeSH)