VAX1
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| Location (UCSC) | Chr 10: 117.13 – 117.14 Mb | Chr 19: 59.15 – 59.16 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Ventral anterior homeobox 1 is a protein that in humans is encoded by the VAX1 gene.[5][6][7]
Function
This gene appears to influence the development in humans of the forebrain. It is also present in mice and xenopus frogs, which suggests a long evolutionary history, and in those organisms its expression is confined to the forebrain, optic and olfactory areas.[8]
VAX1 gene is a
Clinical significance
Mice with homozygous VAX1 mutations have been reported to display craniofacial malformations including
cleft palate.[11]
Genome Wide Association Studies (
non-syndromic clefts and SNPs in the VAX1 gene.[12][13] Replication studies have confirmed these associations in different population groups[14][15]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000148704 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006270 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 9636075.
- PMID 10485894.
- ^ "Entrez Gene: VAX1 ventral anterior homeobox 1".
- ^ PMID 9636075.
- S2CID 14409164.
- PMID 10601035.
- PMID 10601036.
- PMID 20023658.
- PMID 20436469.
- PMID 20572868.
- PMID 20564431.
Further reading
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMID 15489334.
- Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. PMID 15164054.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. PMID 14702039.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.
External links
- VAX1 human gene location in the UCSC Genome Browser.
- VAX1 human gene details in the UCSC Genome Browser.
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