Krev interaction trapped protein 1 is a protein that in humans is encoded by the CCM1 gene. [4] [5] [6] This gene contains 16 coding exons and is located on chromosome 7q21.2. Loss of function mutations in CCM1 result in the onset of Cerebral cavernous malformation. [7] Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.
The normal CCM1 protein, KRIT1 (Krev Interaction Trapped), is 736 amino acids in length and has a variety of functions. KRIT1 has been shown to interact with multiple signaling pathways including; ITGB1BP1., [8] [9] reactive oxygen species, [10] cell death, [11] and angiogenesis. [12] Related to the CCM illness, this protein is required for maintaining the structural integrity of the vasculature. [13] [14]
Cerebral Cavernous Malformation (CCM) is a cavernous hemangioma that arises in the central nervous system (CNS). 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.
Keratin 14 is a member of the type I keratin family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined. Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the KRT14 gene.
Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded by the PAX6 gene.
Twist-related protein 1 (TWIST1) also known as class A basic helix–loop–helix protein 38 (bHLHa38) is a basic helix-loop-helix transcription factor that in humans is encoded by the TWIST1 gene.
Serine/threonine-protein kinase receptor R3 is an enzyme that in humans is encoded by the ACVRL1 gene.
Survival of motor neuron 1 (SMN1), also known as component of gems 1 or GEMIN1, is a gene that encodes the SMN protein in humans.
Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.
Angiopoietin-1 receptor also known as CD202B is a protein that in humans is encoded by the TEK gene. Also known as TIE2, it is an angiopoietin receptor.
Endothelin receptor type B, also known as ETB is a protein that in humans is encoded by the EDNRB gene.
G protein-coupled receptor 56 also known as TM7XN1 is a protein encoded by the ADGRG1 gene. GPR56 is a member of the adhesion GPCR family. Adhesion GPCRs are characterized by an extended extracellular region often possessing N-terminal protein modules that is linked to a TM7 region via a domain known as the GPCR-Autoproteolysis INducing (GAIN) domain.
Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX, X-linked helicase II, or X-linked nuclear protein (XNP) is a protein that in humans is encoded by the ATRX gene.
T-box transcription factor TBX5 is a protein that in humans is encoded by the TBX5 gene.
Homeobox protein Hox-D13 is a protein that in humans is encoded by the HOXD13 gene. This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms.
Polyglutamine-binding protein 1 is a protein that in humans is encoded by the PQBP1 gene.
Integrin beta-1-binding protein 1 is a protein that in humans is encoded by the ITGB1BP1 gene.
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.
Programmed cell death protein 10 is a protein that in humans is encoded by the PDCD10 gene.
WD repeat-containing protein 62 is a protein that in humans is encoded by the WDR62 gene.
Cavernous venous malformations present as rounded, bright red or deep purple, spongy nodules, occurring chiefly on the head and neck and may involve both the skin and the mucous membranes.
Cavernous hemangioma, also called cavernous angioma, cavernoma, or cerebral cavernous malformation (CCM) is a type of benign vascular tumor or hemangioma, where a collection of dilated blood vessels form a lesion. 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.
