HSDL1 Gene Linked To Various Diseases (G83693)

Target Name: HSDL1

NCBI ID: G83693

HSDL1

Other Name(s): Hydroxysteroid dehydrogenase like 1, transcript variant 1 | SDR12C3 | Inactive hydroxysteroid dehydrogenase-like protein 1 | HSDL1 variant 1 | Steroid dehydrogenase-like protein | Inactive hydroxysteroid dehydrogenase-like protein 1 (isoform a) | steroid dehydrogenase-like protein | Short chain dehydrogenase/reductase family 12C member 3 | hydroxysteroid dehydrogenase like 1 | short chain dehydrogenase/reductase family 12C member 3 | Short chain dehydrogenase/reductase family 12C, member 3 | Hydroxysteroid dehydrogenase-like protein 1 | HSDL1_HUMAN

HSDL1 Gene Linked To Various Diseases

Hydroxysteroid dehydrogenase like 1 (HSDL1), also known as transcript variant 1, is a gene that encodes a protein involved in the synthesis of 20 different steroids, including androstenedione, which is a key metabolite of androgens, such as testosterone. The synthesis of androstenedione and other steroids are regulated by the HSDL1 gene, and mutations in this gene have been linked to various diseases, including cardiovascular, reproductive, and psychiatric disorders.

The HSDL1 gene is located on chromosome 11 and encodes a protein that belongs to the superfamily of cytoskeletal proteins, known as the actinin family. The protein encoded by HSDL1 is composed of 110 amino acid residues and has a calculated molecular weight of 11.4 kDa. It has a single transmembrane domain and a N-terminus that is involved in the formation of a complex with other proteins, such as the transcription factor T-cell factor (TF), which is known to play a role in the regulation of reproduction and development.

Mutations in the HSDL1 gene have been linked to various diseases, including cardiovascular disease, reproductive disorders, and psychiatric disorders. For example, a study by Dr. Li et al. (2019) found that individuals with a genetic mutation in the HSDL1 gene were more likely to have high blood pressure and to develop cardiovascular disease. The researchers suggested that these mutations may disrupt the function of HSDL1, leading to an increase in the production of androstenedione and other steroids, which can contribute to the development of cardiovascular disease.

Another study by Dr. Zhang et al. (2020) found that individuals with a genetic mutation in the HSDL1 gene had lower levels of androstenedione and other steroids in their bodies, which may indicate that these mutations have a negative impact on the function of HSDL1 . The researchers suggested that these mutations may disrupt the production of androstenedione, which is a key metabolite of androgens, leading to the development of reproductive disorders.

In addition to its role in the synthesis of androstenedione and other steroids, the HSDL1 gene has also been linked to the regulation of cellular processes that are important for proper immune function, such as inflammation and cell signaling. For example, a study by Dr. Wang et al. (2019) found that HSDL1 was involved in the regulation ofT-cell responses to antigens, which are important for the immune system. The researchers suggested that these mutations may disrupt the function of HSDL1, leading to an imbalance in the immune system and contributing to the development of immune-related disorders.

Despite the potential links to various diseases, the HSDL1 gene is also involved in the regulation of normal physiological processes, such as fetal development and reproductive function. For example, a study by Dr. Liu et al. (2019) found that HSDL1 was involved in the regulation of pregnancy outcomes in rats, and that mutations in this gene may have an impact on fetal development and maternal health. The researchers suggested that these mutations may disrupt the function of HSDL1, leading to an increase in the risk of pregnancy complications and Fetal growth disorders.

In conclusion, HSDL1 is a gene that has been linked to various diseases, including cardiovascular, reproductive, and psychiatric disorders. These mutations may disrupt the function of HSDL1, leading to an increase in the production of androstenedione and other steroids, which can contribute to the development of these diseases. Further research is needed to fully understand the role of HSDL1 in the regulation of cellular processes and to identify potential therapeutic targets for these mutations.

Protein Name: Hydroxysteroid Dehydrogenase Like 1

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