PDCD10
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Programmed cell death protein 10 is a protein that in humans is encoded by the PDCD10 gene.[1][2]
Function
[edit | edit source]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.[2]
Gene
[edit | edit source]Loss of function mutations in PDCD10 result in the onset of Cerebral Cavernous Malformations (CCM) illness.[1] 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.
Interactions
[edit | edit source]CCM3 encodes a protein called Programmed Cell Death 10 (PDCD10). The function of this protein has only recently begun to be understood. PDCD10 has roles in vascular development and VEGF signaling1,[3] apoptosis[4] and functions as part of a larger signaling complex that includes germinal center kinase III.[5][6] Specifically, PDCD10 has been shown to interact with RP6-213H19.1,[7] STK25,[7][8] STRN,[7] STRN3,[7] MOBKL3,[7] CTTNBP2NL,[7] STK24[7][8][9] and FAM40A.[7]
References
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Further reading
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External links
[edit | edit source]- www.angioma.org Angioma Alliance
- www.ccm3.org CCM3 Action Archived 2021-11-09 at the Wayback Machine