AC T03420
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ID T03420
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DT 08.06.2000 (created); rio.
DT 20.11.2007 (updated); sba.
CO Copyright (C), QIAGEN.
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FA HB9
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SY HB-9; HLXB9.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G006207 MNX1; HGNC: MNX1.
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HO pb, proboscipedia (Drosophila).
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CL C0006; homeo; 3.1.1.13.1.
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SF maps to chromosomal location 1q41-q42.1 [1];
SF half-life in CD34-positive cells estimated to be 30-45 minutes [3];
SF treatment of CD34-enriched cells with interleukin-3 (IL-3) and granulocyte macrophage-colony-stimulating factor (GM-CSF) increase expression of HB9 fourfold [3];
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CP (embryo 48 days/Carnie stage 15-17:) anterior horn, spinal cord, roof plate [1]; (embryo 16-20 weeks:) brain, testis, (adult:) peripheric blood lymphocytes, B cells, spleen, thymus, small intestine, colon, tonsil tissue, bone marrow cells [2] [1] [2].
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FF involved in hereditary sacral agenesis (HSA) [1] [4];
FF differentiation of CD34-positive cells likely requires downregulation of both HLX and HB9 [3];
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MX M01349 V$HB9_01.
MX M04403 V$MNX1_02.
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DR TRANSPATH: MO000027356.
DR PATHODB: MT010480.
DR PATHODB: MT010481.
DR PATHODB: MT010482.
DR PATHODB: MT010483.
DR PATHODB: MT010484.
DR PATHODB: MT010560.
DR PATHODB: MT010561.
DR PATHODB: MT010562.
DR PATHODB: MT010563.
DR PATHODB: MT010564.
DR PATHODB: MT010565.
DR PATHODB: MT010566.
DR UniProtKB: P50219;
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RN [1]; RE0014571.
RX PUBMED: 9843207.
RA Ross A. J., Ruiz-Perez V., Wang Y., Hagan D. M., Scherer S., Lynch S. A., Lindsay S., Custard E., Belloni E., Wilson D. I., Wadey R., Goodman F., Orstavik K. H., Monclair T., Robson S., Reardon W., Burn J., Scambler P., Strachan T.
RT A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
RL Nat. Genet. 20:358-361 (1998).
RN [2]; RE0014607.
RX PUBMED: 7914194.
RA Harrison K. A., Druey K. M., Deguchi Y., Tuscano J. M., Kehrl J. H.
RT A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues
RL J. Biol. Chem. 269:19968-19975 (1994).
RN [3]; RE0014609.
RX PUBMED: 1712647.
RA Deguchi Y., Kehrl J. H.
RT Selective expression of two homeobox genes in CD34-positive cells from human bone marrow
RL Blood 78:323-328 (1991).
RN [4]; RE0015205.
RX PUBMED: 10749657.
RA Hagan D. M., Ross A. J., Strachan T., Lynch S. A., Ruiz-Perez V., Wang Y. M., Scambler P., Custard E., Reardon W., Hassan S., Muenke M., Nixon P., Papapetrou C., Winter R. M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M. P., Correia P., Galvin-Parton P. A., Gaskill S., Gaskin K. J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T., McKoewn C., Murdy V., Plauchu H., Shannon N., Spitz L., Lindsay S.
RT Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene
RL Am. J. Hum. Genet. 66:1504-1515 (2000).
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