Homo sapiens ALX homeobox 4 (ALX4), mRNA.
| RefSeq Version | NM_021926.3, 261245049 |
| Length | 5466 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens ALX homeobox 4 (ALX4), mRNA. |
| Product | homeobox protein aristaless-like 4 |
| Comment | Summary: This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq]. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. |
| RefSeq | NP_068745.2 |
| CDS | 105..1340 | Exon (1) | 1..570 | Exon (2) | 1..570 | Exon (3) | 571..881 | Exon (4) | 882..1010 | Exon (5) | 1011..5466 |
| Translation | MNAETCVSYCESPAAAMDAYYSPVSQSREGSSPFRAFPGGDKFGTTFLSAAAKAQGFGDA
KSRARYGAGQQDLATPLESGAGARGSFNKFQPQPSTPQPQPPPQPQPQQQQPQPQPPAQP
HLYLQRGACKTPPDGSLKLQEGSSGHSAALQVPCYAKESSLGEPELPPDSDTVGMDSSYL
SVKEAGVKGPQDRASSDLPSPLEKADSESNKGKKRRNRTTFTSYQLEELEKVFQKTHYPD
VYAREQLAMRTDLTEARVQVWFQNRRAKWRKRERFGQMQQVRTHFSTAYELPLLTRAENY
AQIQNPSWLGNNGAASPVPACVVPCDPVPACMSPHAHPPGSGASSVTDFLSVSGAGSHVG
QTHMGSLFGAASLSPGLNGYELNGEPDRKTSSIAALRMKAKEHSAAISWAT
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here. |
| Position | Chain | Variation | Link |
| complement(14) | - | t, g | dbSNP:116381450 |
| complement(167) | - | g, a | dbSNP:61737298 |
| complement(173) | - | g, c | dbSNP:115968657 |
| 208 | + | c, g | dbSNP:3824915 |
| complement(330) | - | t, g | dbSNP:79200219 |
| complement(408) | - | g, a | dbSNP:12421995 |
| 522 | + | c, t | dbSNP:104894191 |
| complement(698) | - | t, g | dbSNP:61737295 |
| 724 | + | a, c | dbSNP:104894197 |
| complement(725) | - | t, c | dbSNP:10769028 |
| 757 | + | a, g | dbSNP:104894193 |
| complement(833) | - | t, c | dbSNP:11037928 |
| 840 | + | c, t | dbSNP:104894192 |
| complement(843) | - | t, g | dbSNP:78898605 |
| 919 | + | c, g | dbSNP:104894196 |
| complement(983) | - | g, a | dbSNP:12419361 |
| 1178 | + | c, t | dbSNP:3802805 |
| complement(1189) | - | g, a | dbSNP:61737293 |
| 1250 | + | c, t | dbSNP:355697 |
| complement(1386) | - | t, c | dbSNP:72905941 |
| complement(1537..1538) | - | , g | dbSNP:34142561 |
| complement(1568) | - | g, a | dbSNP:4755798 |
| complement(1606) | - | c, a | dbSNP:60998360 |
| complement(1630) | - | g, a | dbSNP:7128671 |
| complement(1712) | - | t, c | dbSNP:113482355 |
| complement(1764..1765) | - | , g | dbSNP:113592690 |
| complement(1857) | - | g, a | dbSNP:4755797 |
| complement(1887) | - | t, c | dbSNP:4755796 |
| 2053 | + | a, c, g, t | dbSNP:410592 |
| 2054 | + | c, g | dbSNP:454205 |
| complement(2147) | - | t, c | dbSNP:117892081 |
| complement(2242) | - | t, c | dbSNP:76229477 |
| complement(2262) | - | c, a | dbSNP:116759460 |
| complement(2263) | - | g, a | dbSNP:115353803 |
| complement(2313) | - | t, c | dbSNP:117526668 |
| complement(2471) | - | g, a | dbSNP:10458913 |
| complement(2567) | - | t, c | dbSNP:76501131 |
| complement(2685) | - | t, c | dbSNP:113781536 |
| complement(2787) | - | t, c | dbSNP:11037920 |
| complement(2902) | - | g, c | dbSNP:111964563 |
| complement(3039) | - | c, a | dbSNP:7942612 |
| complement(3053) | - | g, c | dbSNP:76845793 |
| complement(3236) | - | t, c | dbSNP:55959427 |
| complement(3241) | - | t, c | dbSNP:78007447 |
| complement(3342..3343) | - | , g | dbSNP:35568325 |
| complement(3450) | - | t, c | dbSNP:7105993 |
| complement(3566) | - | t, c | dbSNP:78607024 |
| complement(3574) | - | g, a | dbSNP:74847335 |
| 3819 | + | c, t | dbSNP:897004 |
| complement(3847) | - | t, c | dbSNP:75369525 |
| complement(3994) | - | t, c | dbSNP:112232037 |
| 4022 | + | c, t | dbSNP:897005 |
| complement(4168) | - | g, a | dbSNP:77015141 |
| 4172 | + | a, c | dbSNP:1840254 |
| 4285 | + | a, g | dbSNP:373283 |
| 4286 | + | a, g | dbSNP:453267 |
| complement(4352) | - | g, c | dbSNP:117877500 |
| complement(4447) | - | t, c | dbSNP:4755239 |
| complement(4506) | - | g, a | dbSNP:7116335 |
| complement(4575) | - | t, c | dbSNP:4755238 |
| complement(4629) | - | c, a | dbSNP:114477055 |
| complement(4739) | - | t, g | dbSNP:113734133 |
| complement(4745) | - | t, c | dbSNP:7115841 |
| complement(4936) | - | g, c | dbSNP:11037919 |
| complement(5109) | - | g, a | dbSNP:116662493 |
| complement(5113) | - | t, c | dbSNP:114755169 |
| complement(5458..5459) | - | , a | dbSNP:34557775 |
| Title | Impact of single nucleotide polymorphisms and of clinical risk factors on new-onset diabetes mellitus in HIV-infected individuals . |
| Author | Rotger,M., Gsponer,T., Martinez,R., Taffe,P., Elzi,L., Vernazza,P., Cavassini,M., Bernasconi,E., Hirschel,B., Furrer,H., Weber,R., Ledergerber,B., Egger,M., Telenti,A. and Tarr,P.E. |
| Journal | Clin. Infect. Dis. 51 (9), 1090-1098 (2010) |
| Title | HoxB2, HoxB4 and Alx4 genes are downregulated in the cadmium-induced omphalocele in the chick model . |
| Author | Doi,T., Puri,P., Bannigan,J. and Thompson,J. |
| Journal | Pediatr. Surg. Int. 26 (10), 1017-1023 (2010) |
| Title | Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia . |
| Author | Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J., Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S., Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C. |
| Journal | PLoS ONE 5 (7), E11493 (2010) |
| Title | Performance of epigenetic markers SEPT9 and ALX4 in plasma for detection of colorectal precancerous lesions . |
| Author | Tanzer,M., Balluff,B., Distler,J., Hale,K., Leodolter,A., Rocken,C., Molnar,B., Schmid,R., Lofton-Day,C., Schuster,T. and Ebert,M.P. |
| Journal | PLoS ONE 5 (2), E9061 (2010) |
| Title | Loss of ALX4 expression in epithelial cells and adjacent stromal cells in breast cancer . |
| Author | Chang,H., Mohabir,N., Done,S. and Hamel,P.A. |
| Journal | J. Clin. Pathol. 62 (10), 908-914 (2009) |
| Title | The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500) . |
| Author | Wuyts,W., Cleiren,E., Homfray,T., Rasore-Quartino,A., Vanhoenacker,F. and Van Hul,W. |
| Journal | J. Med. Genet. 37 (12), 916-920 (2000) |
| Title | Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome . |
| Author | Wu,Y.Q., Badano,J.L., McCaskill,C., Vogel,H., Potocki,L. and Shaffer,L.G. |
| Journal | Am. J. Hum. Genet. 67 (5), 1327-1332 (2000) |
| Title | Physical and genetic interactions between Alx4 and Cart1 . |
| Author | Qu,S., Tucker,S.C., Zhao,Q., deCrombrugghe,B. and Wisdom,R. |
| Journal | Development 126 (2), 359-369 (1999) |
| Title | Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11 . |
| Author | Bartsch,O., Wuyts,W., Van Hul,W., Hecht,J.T., Meinecke,P., Hogue,D., Werner,W., Zabel,B., Hinkel,G.K., Powell,C.M., Shaffer,L.G. and Willems,P.J. |
| Journal | Am. J. Hum. Genet. 58 (4), 734-742 (1996) |
| Title | WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2) . |
| Author | McGaughran,J.M., Ward,H.B. and Evans,D.G. |
| Journal | J. Med. Genet. 32 (10), 823-824 (1995) |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |