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) [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
View/Edit Human View/Edit Mouse

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

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]

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. 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)