ADAM33: Difference between revisions

ADAM33
Symbol	ADAM33
HGNC ID	240
Alternative symbols	–
Entrez Gene	80332
OMIM	607114
RefSeq	NM_025220
UniProt	Q9BZ11
Chromosome	20p13
Locus supplementary data	–

Latest revision as of 22:29, 15 December 2024

Human gene encoding the protein ADAM33

ADAM33 is a gene that encodes a member of the ADAM (a disintegrin and metalloprotease) family of proteins. These proteins are involved in a variety of biological processes, including cell signaling, adhesion, and migration. ADAM33 has been implicated in the pathogenesis of asthma and other respiratory diseases.

Structure[edit]

The ADAM33 gene is located on chromosome 20 at the p13 band. It consists of 22 exons and spans approximately 14 kilobases. The protein encoded by ADAM33 is a type I transmembrane protein with a signal peptide, a pro-domain, a metalloprotease domain, a disintegrin domain, a cysteine-rich domain, an EGF-like domain, a transmembrane domain, and a cytoplasmic tail.

Function[edit]

ADAM33 is involved in the remodeling of the extracellular matrix and has been shown to play a role in the development and repair of lung tissue. The protein's metalloprotease domain is responsible for its proteolytic activity, which can cleave and activate or inactivate other proteins. The disintegrin domain is thought to mediate cell-cell and cell-matrix interactions.

Clinical Significance[edit]

ADAM33 has been associated with asthma susceptibility. Genetic studies have identified several single nucleotide polymorphisms (SNPs) in the ADAM33 gene that are linked to an increased risk of developing asthma. These polymorphisms may affect the expression or function of the ADAM33 protein, leading to altered airway remodeling and inflammation.

Research has also suggested a role for ADAM33 in other respiratory conditions, such as chronic obstructive pulmonary disease (COPD) and bronchial hyperresponsiveness.

Research Directions[edit]

Ongoing research is focused on understanding the precise mechanisms by which ADAM33 contributes to asthma and other respiratory diseases. This includes studies on the regulation of ADAM33 expression, the identification of its substrates, and the development of potential therapeutic interventions targeting ADAM33 activity.

Also see[edit]

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-<br>== ADAM33: An Overview ==
+{{Short description|Human gene encoding the protein ADAM33}}
+{{Infobox gene
+| name = ADAM33
+| symbol = ADAM33
+| HGNCid = 240
+| OMIM = 607114
+| EntrezGene = 80332
+| RefSeq = NM_025220
+| UniProt = Q9BZ11
+| chromosome = 20
+| arm = p
+| band = 13
+}}
-ADAM33 is a member of the ADAM (A Disintegrin and Metalloproteinase) family of proteins, which are involved in a variety of biological processes, including cell adhesion, cell fusion, and proteolysis. This article provides a comprehensive overview of ADAM33, its structure, function, and its role in human health and disease.
+'''ADAM33''' is a gene that encodes a member of the ADAM (a disintegrin and metalloprotease) family of proteins. These proteins are involved in a variety of biological processes, including cell signaling, adhesion, and migration. ADAM33 has been implicated in the pathogenesis of [[asthma]] and other [[respiratory diseases]].
-=== Structure and Function ===
+==Structure==
+The ADAM33 gene is located on chromosome 20 at the p13 band. It consists of 22 exons and spans approximately 14 kilobases. The protein encoded by ADAM33 is a type I transmembrane protein with a signal peptide, a pro-domain, a metalloprotease domain, a disintegrin domain, a cysteine-rich domain, an EGF-like domain, a transmembrane domain, and a cytoplasmic tail.
-ADAM33 is a transmembrane protein that contains several distinct domains, each contributing to its function:
+==Function==
+ADAM33 is involved in the remodeling of the extracellular matrix and has been shown to play a role in the development and repair of lung tissue. The protein's metalloprotease domain is responsible for its proteolytic activity, which can cleave and activate or inactivate other proteins. The disintegrin domain is thought to mediate cell-cell and cell-matrix interactions.
-* '''Pro-domain''': This domain is involved in the regulation of the protein's activity. It maintains the enzyme in an inactive form until it is cleaved.
+==Clinical Significance==
-* '''Metalloproteinase domain''': This domain has proteolytic activity, meaning it can cleave other proteins. It contains a zinc-binding motif that is essential for its enzymatic function.
+ADAM33 has been associated with [[asthma]] susceptibility. Genetic studies have identified several single nucleotide polymorphisms (SNPs) in the ADAM33 gene that are linked to an increased risk of developing asthma. These polymorphisms may affect the expression or function of the ADAM33 protein, leading to altered airway remodeling and inflammation.
-* '''Disintegrin domain''': This domain is involved in cell-cell and cell-matrix interactions. It can bind to integrins, which are receptors on the cell surface.
-* '''Cysteine-rich domain''': This domain may play a role in protein-protein interactions.
-* '''EGF-like domain''': This domain is similar to epidermal growth factor and may be involved in cell signaling.
-* '''Transmembrane domain''': This domain anchors the protein in the cell membrane.
-* '''Cytoplasmic tail''': This domain may be involved in intracellular signaling pathways.
-=== Role in Health and Disease ===
+Research has also suggested a role for ADAM33 in other respiratory conditions, such as [[chronic obstructive pulmonary disease]] (COPD) and [[bronchial hyperresponsiveness]].
-ADAM33 has been implicated in several physiological and pathological processes:
+==Research Directions==
+Ongoing research is focused on understanding the precise mechanisms by which ADAM33 contributes to asthma and other respiratory diseases. This includes studies on the regulation of ADAM33 expression, the identification of its substrates, and the development of potential therapeutic interventions targeting ADAM33 activity.
-* '''Asthma''': ADAM33 was one of the first genes identified as being associated with asthma. Variants in the ADAM33 gene have been linked to an increased risk of developing asthma and other respiratory conditions. The protein is thought to be involved in airway remodeling, a process that contributes to the chronic nature of asthma.
+==Also see==
+* [[Asthma]]
+* [[Chronic obstructive pulmonary disease]]
+* [[Metalloprotease]]
+* [[Gene expression]]
-* '''Chronic Obstructive Pulmonary Disease (COPD)''': Similar to its role in asthma, ADAM33 is also associated with COPD. It may contribute to the structural changes in the airways seen in this disease.
+{{Asthma}}
+{{Respiratory system}}
-* '''Cancer''': There is emerging evidence that ADAM33 may play a role in cancer progression. Its ability to modulate the extracellular matrix and influence cell migration and invasion suggests it could be involved in tumor metastasis.
+[[Category:Genes on human chromosome 20]]
+[[Category:Proteases]]
-=== Genetic Variability ===
+[[Category:Asthma]]
-The ADAM33 gene is located on chromosome 20p13. It is highly polymorphic, meaning there are many genetic variants that can influence its expression and function. Some of these variants have been associated with increased susceptibility to asthma and other diseases.
-=== Therapeutic Potential ===
-Given its involvement in airway remodeling and disease, ADAM33 is a potential target for therapeutic intervention. Inhibitors of ADAM33's metalloproteinase activity could potentially be used to treat asthma and COPD by preventing or reversing airway remodeling.
-=== Conclusion ===
-ADAM33 is a multifunctional protein with significant roles in respiratory diseases and potentially in cancer. Understanding its precise functions and mechanisms of action could lead to new therapeutic strategies for these conditions. Ongoing research continues to uncover the complexities of ADAM33 and its impact on human health.
-== References ==
-* Smith, J., & Doe, A. (2020). "The Role of ADAM33 in Asthma and COPD." *Journal of Respiratory Medicine*, 15(3), 123-134.
-* Johnson, L., & Brown, R. (2019). "ADAM33: A Potential Target for Cancer Therapy." *Cancer Research*, 78(12), 4567-4578.
-* Williams, P., & Taylor, H. (2018). "Genetic Variants of ADAM33 and Their Impact on Respiratory Diseases." *Genetics in Medicine*, 20(5), 567-575.