AC T04352
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ID T04352
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DT 22.02.2001 (created); rio.
DT 20.11.2007 (updated); man.
CO Copyright (C), QIAGEN.
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FA TBX1A
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SY T-box protein 1.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G014434 TBX1; HGNC: TBX1.
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CL C0044; T-box; 6.5.3.0.1.1.
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SZ 398 AA; 43.1 kDa (cDNA) (calc.).
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SQ MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGA
SQ PGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALW
SQ DEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWL
SQ VAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPR
SQ FHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDP
SQ EDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAETSRNTPEREVE
SQ LLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC
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SC translated from EMBL #AF012130
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FT 109 302 
SM00425; tbox5.
FT 111 298 
PF00907; T-box.
FT 114 297 
PS50252; TBOX_3.
FT 119 302 
T domain [1].
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SF 98% amino acid identity over 233 amino acids to murine Tbx1 [1];
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CP (fetus 18-24 weeks:) lung, low in kidney, liver and brain, (adult:) testis, skeletal muscle [1].
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FF possible candidate for DiGeorge syndrome [1];
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DR TRANSPATH: MO000028210.
DR EMBL: AF012130;
DR UniProtKB: O43435-1;
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RN [1]; RE0015794.
RX PUBMED: 9268629.
RA Chieffo C., Garvey N., Gong W., Roe B., Zhang G., Silver L., Emanuel B. S., Budarf M. L.
RT Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene
RL Genomics 43:267-277 (1997).
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