CSTPP1-2 Variation: Impact on CSTP-1 Complex and Disease (G79096)

Target Name: CSTPP1

NCBI ID: G79096

CSTPP1

Other Name(s): CSTPP1 variant 2 | Centriolar satellite-associated tubulin polyglutamylase complex regulator 1, transcript variant 2 | UPF0705 protein C11orf49 | Centriolar satellite-associated tubulin polyglutamylase complex regulator 1 (isoform 2) | C11orf49 | centriolar satellite-associated tubulin polyglutamylase complex regulator 1 | centriolar satellite-associated tubulin polyglutamylation protein 1 | CSTP1_HUMAN | Centriolar satellite-associated tubulin polyglutamylase complex regulator 1

CSTPP1-2 Variation: Impact on CSTP-1 Complex and Disease

CSTPP1 (CSTPP1 variant 2) is a gene that encodes for a protein known as CSTP2. CSTP2 is a component of the CSTP-1 complex, which is a protein-protein interaction network that plays a role in regulating various cellular processes. The CSTP-1 complex is composed of four subunits: CSTP1, CSTP2, CSN1, and CSN2.

CSTPP1 variant 2, also known as CSTPP1-2, is a genetic variation in the CSTP-1 complex that has been identified as a risk factor for various diseases, including neurodegenerative disorders, cancer, and cardiovascular diseases. The CSTPP1-2 variation is associated with reduced interaction between the subunits of the CSTP-1 complex, which can lead to decreased protein stability and altered function.

One of the key functions of the CSTP-1 complex is to regulate the activity of ion channels, which are responsible for maintaining the resting membrane potential of cells. The CSTP-1 complex helps to regulate the movement of positively charged ions into and out of cells, which is critical for maintaining the stability of cell membranes and the transmission of electrical signals.

CSTPP1-2 variation has been shown to be associated with reduced interaction between the subunits of the CSTP-1 complex, which can lead to decreased protein stability and altered function. This can have consequences for the regulation of ion channels and the maintenance of cell membranes.

In addition to its role in regulating ion channels, the CSTP-1 complex is also involved in the regulation of various signaling pathways that are involved in cell growth, differentiation, and apoptosis. The CSTP-1 complex has been shown to play a role in the regulation of cell proliferation, and variations in the CSTP-1 complex have been associated with increased or decreased cell proliferation.

CSTPP1-2 variation has also been shown to be associated with the development of certain diseases, including neurodegenerative disorders, cancer, and cardiovascular diseases. For example, individuals with the CSTPP1-2 variation have been shown to have an increased risk of developing Alzheimer's disease, a neurodegenerative disorder that is characterized by the progressive accumulation of toxic beta-amyloid peptides in the brain.

In addition to its association with neurodegenerative disorders, CSTPP1-2 variation has also been shown to be associated with an increased risk of cancer. Studies have shown that individuals with the CSTPP1-2 variation have an increased risk of developing certain types of cancer, including breast cancer and colorectal cancer.

CSTPP1-2 variation has also been shown to be associated with an increased risk of cardiovascular diseases. Studies have shown that individuals with the CSTPP1-2 variation have an increased risk of developing certain cardiovascular conditions, including heart failure and hypertension.

Despite the potential implications of CSTPP1-2 variation for a variety of diseases, research into the consequences of this variation is still in its infancy. Further studies are needed to better understand the role of CSTPP1-2 variation in the development and progression of various diseases.

In conclusion, CSTPP1 (CSTPP1 variant 2) is a gene that encodes for a protein known as CSTP2. The CSTP-1 complex is a protein-protein interaction network that plays a role in regulating various cellular processes, including the regulation of ion channels. The CSTPP1-2 variation is associated with reduced interaction between the subunits of the CSTP-1 complex, which can lead to decreased protein stability and altered function. Further research is needed to better understand the consequences of CSTPP1-2 variation for the development and progression of various diseases.

Protein Name: Centriolar Satellite-associated Tubulin Polyglutamylase Complex Regulator 1

Functions: Regulator of the tubulin polyglutamylase complex (TPGC) that controls cytoskeletal organization, nuclear shape, and cilium disassembly by balancing microtubule and actin assembly (PubMed:34782749). Regulates the assembly and stability of the TPGC and thereby modulates polyglutamylation of the microtubule, which antagonizes MAP4 binding (PubMed:34782749)

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