Programmed cell death protein 10 is a protein that in humans is encoded by the PDCD10 gene. [5] [6]
Programmed cell death protein 10 is a protein that in humans is encoded by the PDCD10 gene. [5] [6]
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. [6]
Loss of function mutations in PDCD10 result in the onset of Cerebral Cavernous Malformations (CCM) illness. [5] 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.
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, [7] apoptosis [8] and functions as part of a larger signaling complex that includes germinal center kinase III. [9] [10] Specifically, PDCD10 has been shown to interact with RP6-213H19.1, [11] STK25, [11] [12] STRN, [11] STRN3, [11] MOBKL3, [11] CTTNBP2NL, [11] STK24 [11] [12] [13] and FAM40A. [11]
Cerebral cavernous malformation (CCM) is a cavernous hemangioma that arises in the central nervous system. It can be considered to be a variant of hemangioma, and is characterized by grossly large dilated blood vessels and large vascular channels, less well circumscribed, and more involved with deep structures, with a single layer of endothelium and an absence of neuronal tissue within the lesions. These thinly walled vessels resemble sinusoidal cavities filled with stagnant blood. Blood vessels in patients with cerebral cavernous malformations (CCM) can range from a few millimeters to several centimeters in diameter. Most lesions occur in the brain, but any organ may be involved.
NF-kappa-B essential modulator (NEMO) also known as inhibitor of nuclear factor kappa-B kinase subunit gamma (IKK-γ) is a protein that in humans is encoded by the IKBKG gene. NEMO is a subunit of the IκB kinase complex that activates NF-κB. The human gene for IKBKG is located on the chromosome band Xq28. Multiple transcript variants encoding different isoforms have been found for this gene.
Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform is an enzyme that is encoded by the PPP2CA gene.
Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform is an enzyme that in humans is encoded by the PPP2R1A gene. In the plant Arabidopsis thaliana a similar enzyme is encoded by the RCN1 gene (At1g25490).
Mitogen-activated protein kinase kinase kinase 1 (MAP3K1) is a signal transduction enzyme that in humans is encoded by the autosomal MAP3K1 gene.
Krev interaction trapped protein 1 or Cerebral cavernous malformations 1 protein is a protein that in humans is encoded by the KRIT1 gene. This gene contains 16 coding exons and is located on chromosome 7q21.2. Loss of function mutations in KRIT1 result in the onset of cerebral cavernous malformation. Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.
The CCM2 gene contains 10 coding exons and an alternatively spliced exon 1B. This gene is located on chromosome 7p13 and loss of function mutations on CCM2 lead to the onset of cerebral cavernous malformations (CCM) illness. Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.
Serine/threonine protein kinase MST4, also known as mammalian STE20-like protein kinase 4 (MST-4), is a protein that in humans is encoded by the MST4 gene.
Immunoglobulin-binding protein 1 is a protein that in humans is encoded by the IGBP1 gene.
CTTNBP2 N-terminal-like protein is a protein that in humans is encoded by the CTTNBP2NL gene. It is a substrate for phosphorylation.
Serine/threonine-protein kinase 24 is an enzyme that in humans is encoded by the STK24 gene located in the chromosome 13, band q32.2. It is also known as Mammalian STE20-like protein kinase 3 (MST-3). The protein is 443 amino acids long and its mass is 49 kDa.
Mps one binder kinase activator-like 3 is an enzyme that in humans is encoded by the MOBKL3 gene.
Striatin-3 is a protein that in humans is encoded by the STRN3 gene.
Striatin is a protein that in humans is encoded by the STRN gene.
Serine/threonine-protein kinase 25 is an enzyme that in humans is encoded by the STK25 gene.
Sarcolemmal membrane-associated protein is a protein that in humans is encoded by the SLMAP gene.
TRAF3-interacting JNK-activating modulator is a protein that in humans is encoded by the TRAF3IP3 gene.
Cortactin-binding protein 2 is a protein that in humans is encoded by the CTTNBP2 gene.
Striatin-4 is a protein that in humans is encoded by the STRN4 gene.
Cavernous hemangioma, also called cavernous angioma, venous malformation, or cavernoma, is a type of venous malformation due to endothelial dysmorphogenesis from a lesion which is present at birth. A cavernoma in the brain is called a cerebral cavernous malformation or CCM. Despite its designation as a hemangioma, a cavernous hemangioma is not a tumor as it does not display endothelial hyperplasia. The abnormal tissue causes a slowing of blood flow through the cavities, or "caverns". The blood vessels do not form the necessary junctions with surrounding cells, and the structural support from the smooth muscle is hindered, causing leakage into the surrounding tissue. It is the leakage of blood, referred to as hemorrhage, that causes a variety of symptoms known to be associated with the condition.