AC T04293
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ID T04293
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DT 05.02.2001 (created); rio.
DT 14.04.2009 (updated); ach.
CO Copyright (C), QIAGEN.
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FA lmx1b-isoform1
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SY LIM homeobox transcription factor 1, beta; LMX1.2; LMX1B; NPS1.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G002228 LMX1B; HGNC: LMX1B.
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CL C0025; LIM-homeo; 3.1.5.6.2.1.
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SZ 379 AA; 42.4 kDa (cDNA) (calc.).
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SQ MLDGIKMEEHALRPGPATLGVLLGSDCPHPAVCEGCQRPISDRFLMRVNESSWHEECLQC
SQ AACQQALTTSCYFRDRKLYCKQDYQQLFAAKCSGCMEKIAPTEFVMRALECVYHLGCFCC
SQ CVCERQLRKGDEFVLKEGQLLCKGDYEKEKDLLSSVSPDESDSVKSEDEDGDMKPAKGQG
SQ SQSKGSGDDGKDPRRPKRPRTILTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVV
SQ QVWFQNQRAKMKKLARRHQQQQEQQNSQRLGQEVLSSRMEGMMASYTPLAPPQQQIVAME
SQ QSPYGSSDPFQQGLTPPQMPGDHMNPYGNDSIFHDIDSDTSLTSLSDCFLGSSDVGSLQA
SQ RVGNPIDRLYSMQSSYFAS
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SC translated from EMBL #AF057135
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FT 31 90 
PS50023; LIM_DOMAIN_2.
FT 32 83 
SM00132; lim_4.
FT 33 89 
PF00412; LIM domain.
FT 91 145 
SM00132; lim_4.
FT 91 152 
PS50023; LIM_DOMAIN_2.
FT 92 151 
PF00412; LIM domain.
FT 194 254 
PS50071; HOMEOBOX_2.
FT 196 258 
SM00389; HOX_1.
FT 197 253 
PF00046; Homeobox domain.
FT 197 253 
PS50558; LIM_HOMEODOMAIN.
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SF mutation/haploinsufficiency causes nail-patella syndrome (NPS) involving maldevelopment of the fingernails, kneecaps and elbow joints, hip dislocation, club foot, renal disease and open-angle glaucoma (OAG) [2] [3] [5];
SF expression in substantia nigra is reduced in Parkinson patients due to the loss of dopaminergic neurons in this region [6];
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EX brain,,,adult; low; RT-PCR; total RNA; [1].
EX duodenum,,,adult; high; RT-PCR; total RNA; [1].
EX fatty layer of subcutaneous tissue,,,adult; low; RT-PCR; total RNA; [1].
EX fatty layer of subcutaneous tissue,dopaminergic cell in compact part of substantia nigra,,adult; detectable; RNA-in situ hybridization (not further specified); RNA (undefined); [6].
EX liver,,,adult; none; RT-PCR; total RNA; [1].
EX lung (right and left),,,adult; very low; RT-PCR; total RNA; [1].
EX muscles,,,adult; high; RT-PCR; total RNA; [1].
EX pancreas,,,adult; none; RT-PCR; total RNA; [1].
EX pancreatic islets,,,adult; high; RT-PCR; total RNA; [1].
EX spleen,,,adult; very low; RT-PCR; total RNA; [1].
EX testis (right and left),,,adult; very high; RT-PCR; total RNA; [1].
EX thyroid gland,,,adult; high; RT-PCR; total RNA; [1].
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FF involved in dorsoventral patterning during limb development [2];
FF transcriptional activator, transactivation is downregulated by CLIM2 T04197 [4];
FF may be involved in genesis and differentiation of the mesencephalic dopaminergic system [6];
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MX M01363 V$LMX1B_01.
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DR TRANSPATH: MO000028155.
DR EMBL: AF057135;
DR UniProtKB: O60663-1;
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RN [1]; RE0015716.
RX PUBMED: 9441763.
RA Iannotti C. A., Inoue H., Bernal E., Aoki M., Liu L., Donis-Keller H., German M. S., Permutt M. A.
RT Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9
RL Genomics 46:520-524 (1997).
RN [2]; RE0015724.
RX PUBMED: 9618165.
RA Vollrath D., Jaramillo-Babb V. L., Clough M. V., McIntosh I., Scott K. M., Lichter P. R., Richards J. E.
RT Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome
RL Hum. Mol. Genet. 7:1091-1098 (1998).
RN [3]; RE0015725.
RX PUBMED: 9837817.
RA McIntosh I., Dreyer S. D., Clough M. V., Dunston J. A., Eyaid W., Roig C. M., Montgomery T., Ala-Mello S., Kaitila I., Winterpacht A., Zabel B., Frydman M., Cole W. G., Francomano C. A., Lee B.
RT Mutation analysis of LMX1B gene in nail-patella syndrome patients
RL Am. J. Hum. Genet. 63:1651-1658 (1998).
RN [4]; RE0015731.
RX PUBMED: 10767331.
RA Dreyer S. D., Morello R., German M. S., Zabel B., Winterpacht A., Lunstrum G. P., Horton W. A., Oberg K. C., Lee B.
RT LMX1B transactivation and expression in nail-patella syndrome
RL Hum. Mol. Genet. 9:1067-1074 (2000).
RN [5]; RE0015732.
RX PUBMED: 10966502.
RA Knoers N. V., Bongers E. M., Beersum S. E., Lommen E. J., Bokhoven H. V., Hol F. A.
RT Nail-patella syndrome: identification of mutations in the LMX1B gene in dutch families
RL J. Am. Soc. Nephrol. 11:1762-1766 (2000).
RN [6]; RE0015733.
RX PUBMED: 10725922.
RA Smidt M. P., Asbreuk C. H., Cox J. J., Chen H., Johnson R. L., Burbach J. P.
RT A second independent pathway for development of mesencephalic dopaminergic neurons requires Lmx1b
RL Nat. Neurosci. 3:337-341 (2000).
RN [7]; RE0015748.
RX PUBMED: 8136842.
RA Church D. M., Stotler C. J., Rutter J. L., Murrell J. R., Trofatter J. A., Buckler A. J.
RT Isolation of genes from complex sources of mammalian genomic DNA using exon amplification
RL Nat. Genet. 6:98-105 (1994).
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