XX
XX
XX
FA Alx-4
XX
SY aristaless homeobox
like 4.
XX
OS human, Homo sapiens
OC eukaryota; animalia;
metazoa; chordata; vertebrata; tetrapoda; mammalia;
OC eutheria;
primates
XX
XX
CL C0006; homeo.
XX
SZ 410
AA; 44.4 kDa (cDNA)
XX
XX
SC translated from EMBL
#AF294629
XX
FT 214 273 homeo domain.
FT 214 276 SM00389;
HOX.
FT 215 271 PF00046; homeobox.
FT 385 405 PF03826;
OAR.
FT 390 403 OAR domain [3].
XX
SF OAR domain (initials
of Otp, Aristaless and Rax) is a conserved region
SF C-terminal
of the homeo domain [3]
XX
CP bone [2]
XX
FF mutation
(haploinsufficiency) causes parietal foramina (PFM) or
FF
Potocki-Shaffer syndrome (oval defects of the parietal bones)
[2] [1];
FF involved in skull ossification [1];
XX
XX
XX
RN [1]; RE0015552.
RA Mavrogiannis L. A., Antonopoulou
I., Baxova A., Kutilek S., Kim C. A.,
RA 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
RT ossification
defects
RL Nat. Genet. 27:17-18 (2001).
RN [2]; RE0015330.
RX MEDLINE; 20489877.
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
RT
11p11.2 Contiguous Gene-Deletion Syndrome
RL Am. J. Hum. Genet.
67:1327-1332 (2000).
RN [3]; RE0014693.
RX MEDLINE; 97250494.
RA Furukawa T., Kozak C. A., Cepko C. L.
RT rax, a novel paired-type
homeobox gene, shows expression in the anterior
RT neural
fold and developing retina
RL Proc. Natl. Acad. Sci. USA 94:3088-3093
(1997).
XX