This gene encodes a protein, originally identified in a premyeloid cell line, with similarity to proteins that participate in apoptosis. Three alternative transcripts encoding the same protein, differing only in their 5' UTRs, have been identified for this gene.
Loss of function mutations in PDCD10 result in the onset of Cerebral Cavernous Malformations (CCM) illness. Therefore, this gene is also called CCM3. Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty five tests were carried out on mutant mice and two significant abnormalities were observed. No homozygousmutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.
^Fidalgo M, Fraile M, Pires A, Force T, Pombo C, Zalvide J (Apr 2010). "CCM3/PDCD10 stabilizes GCKIII proteins to promote Golgi assembly and cell orientation". Journal of Cell Science. 123 (Pt 8): 1274–84. doi:10.1242/jcs.061341. PMID20332113.
^ abRual 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. doi:10.1038/nature04209. PMID16189514.
Craig HD, Günel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Steichen-Gersdorf E, Sabroe R, Kennedy CT, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP (Nov 1998). "Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27". Human Molecular Genetics. 7 (12): 1851–8. doi:10.1093/hmg/7.12.1851. PMID9811928.
Guclu B, Ozturk AK, Pricola KL, Seker A, Ozek M, Gunel M (Nov 2005). "Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations". Stroke; A Journal of Cerebral Circulation. 36 (11): 2479–80. doi:10.1161/01.STR.0000183616.99139.d3. PMID16239636.
Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA (Jan 2006). "Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus". Human Mutation. 27 (1): 118. doi:10.1002/humu.9389. PMID16329096.
Tsang HT, Connell JW, Brown SE, Thompson A, Reid E, Sanderson CM (Sep 2006). "A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex". Genomics. 88 (3): 333–46. doi:10.1016/j.ygeno.2006.04.003. PMID16730941.
Labauge P, Krivosic V, Denier C, Tournier-Lasserve E, Gaudric A (Jun 2006). "Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study". Archives of Ophthalmology. 124 (6): 885–6. doi:10.1001/archopht.124.6.885. PMID16769843.