SMPD4: A Potential Drug Target and Biomarker for Diseases (G55627)

Target Name: SMPD4

NCBI ID: G55627

SMPD4: A Potential Drug Target and Biomarker for Diseases

SMPD4 (Splice modifier protein 4) is a protein that is expressed in various tissues throughout the body. It is a key regulator of splicing, which is the process by which the cell removes non-coding DNA sequences from the RNA molecule during gene expression. Mutations in the SMPD4 gene have been linked to a variety of diseases, including cancer, neurodegenerative diseases, and developmental disorders. As a result, SMPD4 has emerged as a promising drug target and biomarker for a variety of diseases.

SMPD4 is a member of the KIAA1418 family of proteins, which are known as splicing factors. These proteins play a critical role in regulating splicing by helping to ensure that the correct version of each gene's RNA molecule is produced. SMPD4 is specifically involved in the regulation of the splicing of the alpha-221 gene, which is located on chromosome 16 and is involved in the production of a protein called alpha-2 (alpha-2) antitubulin.

Mutations in the SMPD4 gene have been linked to a variety of diseases, including cancer, neurodegenerative diseases, and developmental disorders. For example, studies have shown that mutations in the SMPD4 gene are associated with an increased risk of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. Additionally, mutations in the SMPD4 gene have also been linked to an increased risk of cancer, particularly lung cancer.

In addition to its role in regulating splicing, SMPD4 is also involved in the regulation of cellular processes that are important for cell survival. For example, studies have shown that SMPD4 plays a critical role in the regulation of cell adhesion, which is the process by which cells stick together to form tissues and organs. Additionally, SMPD4 is involved in the regulation of cell signaling, which is the process by which cells communicate with each other to carry out a variety of tasks.

SMPD4 is also a potential biomarker for a variety of diseases. For example, studies have shown that SMPD4 levels are elevated in the brains of individuals with Alzheimer's disease, which is associated with increased levels of beta-amyloid protein. Additionally, SMPD4 levels have also been shown to be elevated in the blood of individuals with neurodegenerative diseases, which suggests that these diseases may be associated with increased levels of SMPD4.

In conclusion, SMPD4 is a protein that is involved in the regulation of splicing and cellular processes that are important for cell survival. Mutations in the SMPD4 gene have been linked to a variety of diseases, including cancer, neurodegenerative diseases, and developmental disorders. As a result, SMPD4 has emerged as a promising drug target and biomarker for a variety of diseases. Further research is needed to fully understand the role of SMPD4 in these diseases and to develop effective treatments.

Protein Name: Sphingomyelin Phosphodiesterase 4

Functions: Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (PubMed:16517606, PubMed:25180167). It has a relevant role in the homeostasis of membrane sphingolipids, thereby influencing membrane integrity, and endoplasmic reticulum organization and function (PubMed:31495489). May sensitize cells to DNA damage-induced apoptosis (PubMed:18505924). In skeletal muscle, mediates TNF-stimulated oxidant production (By similarity)

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