Acid Sphingomyelinase (SMPD1)

Specification

• Cat#: THP-0283
• Product Name: Acid Sphingomyelinase (SMPD1)
• Description: Recombinant Human Acid sphingomyelinase protein (1-364 aa) is produced by Wheat germ system. This protein could converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 and isoform 3 have lost catalytic activity.
• Sequences: MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLALALALALALALSDS RVLWAPAEAHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAIN LGLKKEPNVARVGSVAIKLCNLLKIAPPAVCRSIVHLFEDDMVEVWRRSV LSPSEACGLLLGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSR ILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASRPGAGYWGEYSKC DLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTTVT ALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWE PWLPAEALRTLRCI
• Species: Human
• Molecular Weight: 66 kDa including tags
• Source: Wheat germ
• Introduction: Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPDA) [MIM:257200]; also known as Niemann-Pick disease classical infantile form. It is an early-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, mental retardation, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. A phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPDB) [MIM:607616]; also known as Niemann-Pick disease visceral form. It is a late-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Clinical signs involve only visceral organs. The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations. However, a phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. In Niemann-Pick disease type B, onset of the first symptoms occurs in early childhood and patients can survive into adulthood.
• Formulation: Liquid

Pharmaceutical Information

• Applications: Healing Niemann-Pick disease type A (NPDA) and Niemann-Pick disease type B (NPDB).
• Examples of Clinical Use: Healing Niemann-Pick disease type A (NPDA) and Niemann-Pick disease type B (NPDB).
• Affected organisms: Humans

Related Reading

SMPD1 is an acid enzyme, also known as sphingomyelin acetylcholinesterase A (ASAH1). It is encoded by the ASAH1 gene and is located on chromosome 11q13.3 on the long arm in humans. Mutations in the ASAH1 gene lead to defects in SMPD1, which may cause serious diseases.

The function and role of SMPD1

SMPD1 is an important enzyme on the cell membrane, which converts sphingomyelin into phosphate and choline, that is very important for membrane fluidity, cell apoptosis and signal transduction. In addition, SMPD1 is also a key enzyme that regulates lipid metabolism. SMPD1 plays an important role in bone marrow hematopoiesis and has a regulatory function for inflammatory responses.

SMPD1 related diseases

Mutations in the SMPD1 gene may lead to adult and infant forms of malignant fatty liver, as well as several other diseases, including Niemann Pique's disease and Crohn's disease.

Niemann Pick's disease is a rare disorder of genetic metabolism, which leads to the deposition of sphingomyelin in the cystic glands of organs and nervous system involved tissues, leading to failure and functional decline.

Crocker's disease is an immune related disease that affects the intestines. In patients with Crocker's disease, the expression level of SMPD1 gene is reduced.

Potential applications of SMPD1 in medicine

In medicine, the potential uses of SMPD1 are very broad. A study found that for certain types of cancer cells, SMPD1 levels are lower, which is related to the weakened clearance function of these cells. In addition, SMPD1 has strong sensitivity to acidic environments, which can be used to identify and treat some tumors. Furthermore, the special functions of SMPD1 can also be used to study the diagnosis and treatment of certain specific diseases.

List of SMPD1 related drugs under research

Some known drugs can treat specific diseases by regulating the expression level of SMPD1 or inhibiting its function. For example, SMPD1 small interfering RNA (siRNA) or SMPD1 gene therapy is a potential treatment option for Niemann Pike's disease.

In addition, recent studies have shown that non-steroidal anti-inflammatory drugs (NSAIDs) can alleviate symptoms in patients with Crohn's disease by inhibiting SMPD1 activity.

Overall, the deficiency of SMPD1 is the cause of some neurological and immunological diseases, and its special function also makes it potentially valuable in the treatment of certain diseases. In the future, more research is needed to further reveal the role of SMPD1 in diseases and its potential therapeutic applications.