BBS10: A Rare Genetic Disorder with A Promising Future (G79738)

Target Name: BBS10

NCBI ID: G79738

BBS10

Other Name(s): Bardet-Biedl syndrome 10 | C12orf58 | BBS10_HUMAN | FLJ23560 | Bardet-Biedl syndrome 10 protein

BBS10: A Rare Genetic Disorder with A Promising Future

BBS10, also known as Bardet-Biedl syndrome 10, is a rare genetic disorder that affects the development and progression of various diseases, including cardiovascular disease, neurodegenerative disorders, and urologic abnormalities. The disorder is characterized by the presence of a missing segment of chromosome 15, which results in the loss of several genes and the development of characteristic symptoms.

BBS10 is a genetic disorder that affects approximately 1 in 50,000 people worldwide. It is named after the Bardet-Biedl family, who first described the disorder in the 1980s. The disorder is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene to develop the disorder.

The symptoms of BBS10 vary depending on the severity of the disorder and the age of onset. In general, the disorder is characterized by the following symptoms:

* Cardiovascular disease: BBS10 is associated with an increased risk of cardiovascular disease, including heart failure, hypertension, and stroke.
* Neurodegenerative disorders: BBS10 is linked to the development of neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease, and Huntington's disease.
* Urologic abnormalities: BBS10 is associated with the development of urologic abnormalities, including urinary tract abnormalities and testicular dysfunction.

The exact cause of BBS10 is not known, but it is thought to be caused by a combination of genetic and environmental factors. Researchers have identified several genetic mutations that are associated with the disorder, but more research is needed to understand the full genetic basis of the disorder.

Despite the challenges of BBS10, there is hope for future treatments and therapies. The development of new drugs and therapies that can target the genetic mutations associated with the disorder is an active area of research, and has the potential to improve treatment options for individuals with BBS10.

In addition to drug development, there is also significant interest in the potential use of BBS10 as a biomarker for the diagnosis and prognosis of other diseases. The disorder is thought to be diagnostic gold for some researchers, as it provides a clear and consistent phenotype for which there is a strong genetic basis.

Overall, BBS10 is a complex and rare disorder that is characterized by a range of symptoms and challenges. While there is currently no cure for the disorder, there is hope for future treatments and therapies, and for the development of new biomarkers that can help improve our understanding of the disorder.

Protein Name: Bardet-Biedl Syndrome 10

Functions: Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184)

The "BBS10 Target / Biomarker Review Report" is a customizable review of hundreds up to thousends of related scientific research literature by AI technology, covering specific information about BBS10 comprehensively, including but not limited to:
•   general information;
•   protein structure and compound binding;
•   protein biological mechanisms;
•   its importance;
•   the target screening and validation;
•   expression level;
•   disease relevance;
•   drug resistance;
•   related combination drugs;
•   pharmacochemistry experiments;
•   related patent analysis;
•   advantages and risks of development, etc.
The report is helpful for project application, drug molecule design, research progress updates, publication of research papers, patent applications, etc. If you are interested to get a full version of this report, please feel free to contact us at BD@silexon.ai

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