ABHD11 Protein: Key Component of Williams-Beuren Syndrome (G83451)

Target Name: ABHD11

NCBI ID: G83451

ABHD11

ABHD11 Protein: Key Component of Williams-Beuren Syndrome

Williams-Beuren syndrome (WBS) is a rare genetic disorder that is characterized by the presence of a single extra chromosome 21 in the affected cell. This extra chromosome is known as the Williams-Beuren syndrome chromosomal region 21 protein (ABHD11).

The ABHD11 protein is a key component of the Williams-Beuren syndrome chromosomal region 21, and it is responsible for the development and progression of the disease. The protein is made up of four distinct domains: a N-terminal alpha-helix, a middle transmembrane region, a C-terminal coiled-coil, and a terminal alpha-helix.

The N-terminal alpha-helix is 鈥嬧?媡he primary structural domain of the ABHD11 protein, and it is responsible for the protein's stability and localization to the endoplasmic reticulum (ER). The middle transmembrane region is responsible for the protein's ability to interact with other cellular components, including other proteins and nucleic acids. The C-terminal coiled-coil is the protein's unique feature that allows it to form a stable complex with the endoplasmic reticulum, where it is retained and can influence the expression of genes in the ER. Finally , the terminal alpha-helix is 鈥嬧?媡he C-terminal extension of the N-terminal alpha-helix and is responsible for the protein's stability and localization to the endoplasmic reticulum.

The ABHD11 protein is a key component of the Williams-Beuren syndrome chromosomal region 21, and it is responsible for the development and progression of the disease.

The ABHD11 protein plays a crucial role in the development and progression of Williams-Beuren syndrome. The presence of an extra chromosome 21 in affected cells is associated with the development of various physiological and developmental abnormalities, including cardiovascular disease, hearing loss, and cognitive impairment . The ABHD11 protein is also involved in the regulation of cellular processes that are critical for the normal function of cells, including cell division, apoptosis, and signaling pathways.

In addition to its role in the development and progression of Williams-Beuren syndrome, the ABHD11 protein is also a potential drug target or biomarker. The protein is expressed in most tissues of the body and can be easily purified and used for a variety of biochemical and biophysical studies. The ABHD11 protein is also a good candidate for small molecule inhibitors, which have been shown to be effective in treating a variety of genetics and diseases, including Williams-Beuren syndrome.

The ABHD11 protein is also a potential biomarker for the diagnosis and monitoring of Williams-Beuren syndrome. The protein is expressed in most tissues of the body and can be used as a protein biomarker for the disease. This can be done by using techniques such as Western blotting or immunofluorescence, which can detect the expression of the ABHD11 protein in affected cells. Additionally, the protein can be used as a genetic marker to diagnose Williams-Beuren syndrome.

In conclusion, the ABHD11 protein is a key component of the Williams-Beuren syndrome chromosomal region 21 and is responsible for the development and progression of the disease. It is also a potential drug target or biomarker for the diagnosis and treatment of Williams-Beuren syndrome . Further research is needed to fully understand the role of the ABHD11 protein in the development and progression of the disease, as well as its potential as a drug target or biomarker.

Protein Name: Abhydrolase Domain Containing 11

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