AC T03335
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ID T03335
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DT 16.05.2000 (created); rio.
DT 02.11.2012 (updated); spk.
CO Copyright (C), QIAGEN.
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FA HOXD13
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SY Hox-4.8.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G006234 HOXD13; HGNC: hoxd13.
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CL C0006; homeo; 3.1.1.8.16.
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FF a polyalanine duplication at the 5' end, which might result from unequal crossing-over of HOXD13, is responsible for synpolydactyly (SPD) [3] [1] [2];
FF penetrance and severity of the SPD phenotype might correlate with the size of the polyalanine duplication [4];
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IN T25618 Cdc6; human, Homo sapiens.
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MX M07456 V$HOXA913_Q4.
MX M01404 V$HOXD13_01.
MX M04363 V$HOXD13_03.
MX M04364 V$HOXD13_04.
MX M08817 V$HOXD13_Q6.
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BS R71772.
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DR TRANSPATH: MO000027273.
DR PATHODB: MT010473.
DR PATHODB: MT010474.
DR PATHODB: MT010475.
DR PATHODB: MT010476.
DR PATHODB: MT010477.
DR PATHODB: MT010478.
DR PATHODB: MT010479.
DR UniProtKB: P35453;
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RN [1]; RE0006316.
RX PUBMED: 8614804.
RA Muragaki Y., Mundlos S., Upton J., Olsen B. R.
RT Altered growth and branching patterns in synpolydacyly caused by mutations in HOXD13
RL Science 272:548-551 (1996).
RN [2]; RE0006373.
RX PUBMED: 9005557.
RA Warren S. T.
RT Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13
RL Science 275:408-409 (1997).
RN [3]; RE0014507.
RX PUBMED: 8817328.
RA Akarsu A. N., Stoilov I., Yilmaz E., Sayli B. S., Sarfarazi M.
RT Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families
RL Hum. Mol. Genet. 5:945-952 (1996).
RN [4]; RE0014508.
RX PUBMED: 9207113.
RA Goodman F. R., Mundlos S., Muragaki Y., Donnai D., Giovannucci-Uzielli M. L., Lapi E., Majewski F., McGaughran J., McKeown C., Reardon W., Upton J., Winter R. M., Olsen B. R., Scambler P. J.
RT Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
RL Proc. Natl. Acad. Sci. USA 94:7458-7463 (1997).
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