AC T04012
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ID T04012
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DT 21.11.2000 (created); rio.
DT 20.11.2007 (updated); sba.
CO Copyright (C), QIAGEN.
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FA Alx-4
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SY aristaless homeobox like 4.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G002044 ALX4; HGNC: Alx4.
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CL C0006; homeo; 3.1.3.1.3.
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SF OAR domain (initials of Otp, Aristaless and Rax) is a conserved region C-terminal of the homeo domain [1];
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CP bone [2].
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FF mutation (haploinsufficiency) causes parietal foramina (PFM) or Potocki-Shaffer syndrome (oval defects of the parietal bones) [2] [3];
FF involved in skull ossification [3];
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MX M00619 V$ALX4_01.
MX M01417 V$ALX4_02.
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DR TRANSPATH: MO000027921.
DR UniProtKB: Q9H161;
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RN [1]; RE0014693.
RX PUBMED: 9096350.
RA Furukawa T., Kozak C. A., Cepko C. L.
RT rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina
RL Proc. Natl. Acad. Sci. USA 94:3088-3093 (1997).
RN [2]; RE0015330.
RX PUBMED: 11017806.
RA Wu Y. Q., Badano J. L., McCaskill C., Vogel H., Potocki L., Shaffer L. G.
RT Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene-Deletion Syndrome
RL Am. J. Hum. Genet. 67:1327-1332 (2000).
RN [3]; RE0015552.
RX PUBMED: 11137991.
RA Mavrogiannis L. A., Antonopoulou I., Baxova A., Kutilek S., Kim C. A., Sugayama S. M., Salamanca A., Wall S. A., Morriss-Kay G. M., Wilkie A. O.
RT Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
RL Nat. Genet. 27:17-18 (2001).
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