AC T04311
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ID T04311
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DT 07.02.2001 (created); rio.
DT 11.06.2015 (updated); smt.
CO Copyright (C), QIAGEN.
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FA Pitx3
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SY paired-like homeodomain transcription factor 3; Ptx-3; Ptx3.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G006562 PITX3; HGNC: PITX3.
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HO unc-30 T03371 (C. elegans).
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CL C0006; homeo; 3.1.3.19.3.
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SF reduced density of Pitx3 expressing neurons in the substantia nigra of Parkinson patients [1];
SF 99% amino acid identity to murine Pitx3 T04305 [2];
SF mutation causes cataracts and anterior segment mesenchymal dysgenesis (ASMD) [2];
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EX substantia nigra,dopaminergic neuron,,adult; high; RNA-in situ hybridization (not further specified); RNA (undefined); [1].
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FF induces maturation of both murine MM13 and human H9 embryonic stem cell to the midbrain dopamine neuron phenotype in co-ordination with Nurr1 T10108 [3];
FF may be involved in development and/or maintenance of a subset of dopaminergic neurons [1];
FF role in anterior-chamber and lens development [2];
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MX M01343 V$PITX3_01.
MX M04429 V$PITX3_03.
MX M01735 V$PITX3_Q2.
MX M07057 V$PITX3_Q3.
MX M07392 V$PITX3_Q3_01.
MX M08895 V$PITX_Q4.
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DR TRANSPATH: MO000028169.
DR UniProtKB: O75364;
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RN [1]; RE0015734.
RX PUBMED: 9371841.
RA Smidt M. P., van Schaick H. S., Lanctot C., Tremblay J. J., Cox J. J., van der Kleij A. A., Wolterink G., Drouin J., Burbach J. P.
RT A homeodomain gene Ptx3 has highly restricted brain expression in mesencephalic dopaminergic neurons
RL Proc. Natl. Acad. Sci. USA 94:13305-13310 (1997).
RN [2]; RE0015739.
RX PUBMED: 9620774.
RA Semina E. V., Ferrell R. E., Mintz-Hittner H. A., Bitoun P., Alward W. L., Reiter R. S., Funkhauser C., Daack-Hirsch S., Murray J. C.
RT A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD
RL Nat. Genet. 19:167-170 (1998).
RN [3]; RE0051892.
RX PUBMED: 16477036.
RA Martinat C., Bacci J. J., Leete T., Kim J., Vanti W. B., Newman A. H., Cha J. H., Gether U., Wang H., Abeliovich A.
RT Cooperative transcription activation by Nurr1 and Pitx3 induces embryonic stem cell maturation to the midbrain dopamine neuron phenotype.
RL Proc. Natl. Acad. Sci. USA 103:2874-2879 (2006).
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