ALX1

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Template:Short description An Error has occurred retrieving Wikidata item for infobox ALX homeobox protein 1 is a protein that in humans is encoded by the ALX1 gene.[1][2][3]

Function

The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly.[3]

In Burmese cats, especially the lineage known as Contemporary Burmese, a deletion of four aminoacids in ALX1 is common. When heterozygous, the mutation causes brachycephaly; when homozygous it causes a fatal head malformation known as Burmese head defect.[4]

In Darwin's finches, inhabiting the Galápagos islands, ALX1 has been linked to the diversity of beak shapes.[5]

Interactions

ALX1 has been shown to interact with IPO13.[6]

References

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  1. ^ Page Module:Citation/CS1/styles.css has no content.Gordon DF, Wagner J, Atkinson BL, Chiono M, Berry R, Sikela J, Gutierrez-Hartmann A (Jul 1996). "Human Cart-1: structural organization, chromosomal localization, and functional analysis of a cartilage-specific homeodomain cDNA". DNA and Cell Biology. 15 (7): 531–41. doi:10.1089/dna.1996.15.531. PMID 8756334.
  2. ^ Page Module:Citation/CS1/styles.css has no content.Régnier CH, Tomasetto C, Moog-Lutz C, Chenard MP, Wendling C, Basset P, Rio MC (Oct 1995). "Presence of a new conserved domain in CART1, a novel member of the tumor necrosis factor receptor-associated protein family, which is expressed in breast carcinoma". The Journal of Biological Chemistry. 270 (43): 25715–21. doi:10.1074/jbc.270.43.25715. PMID 7592751.
  3. ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: CART1 cartilage paired-class homeoprotein 1".
  4. ^ Page Module:Citation/CS1/styles.css has no content."Burmese - Burmese Head Defect". Universities Federation for Animal Welfare. Retrieved 7 June 2023.
  5. ^ Page Module:Citation/CS1/styles.css has no content.Lamichhaney S, Berglund J, Almén MS, Maqbool K, Grabherr M, Martinez-Barrio A, Promerová M, Rubin CJ, Wang Zamani N, Grant BR, Webster MT, Andersson L (11 February 2015). "Evolution of Darwin's finches and their beaks revealed by genome sequencing". Nature. 518 (7539): 371–5. Bibcode:2015Natur.518..371L. doi:10.1038/nature14181. PMID 25686609. S2CID 4462253.
  6. ^ Page Module:Citation/CS1/styles.css has no content.Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

Further reading

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