BSL1L

BSL1L, also known as B-cell scaffold protein with LIM domains 1-like, is a protein that in humans is encoded by the BSL1L gene. This gene is located on chromosome 19q13.2. BSL1L is a member of the LIM-only protein family, which are characterized by the presence of LIM domains. These domains are involved in protein-protein interactions and are often found in proteins that regulate cell growth, differentiation, and apoptosis.

BSL1L is expressed in various tissues, including the brain, heart, and skeletal muscle. Its primary function is thought to be involved in the regulation of cell growth and differentiation. However, the exact mechanisms by which BSL1L exerts its effects are not fully understood. Some studies suggest that BSL1L may play a role in the development of certain types of cancer, although more research is needed to confirm this.

Mutations in the BSL1L gene have been associated with several genetic disorders, including a form of intellectual disability and a rare form of muscular dystrophy. These mutations can lead to the production of a non-functional or truncated BSL1L protein, disrupting its normal function and contributing to the development of these disorders.

In summary, BSL1L is a LIM-only protein that plays a role in cell growth and differentiation. Mutations in the BSL1L gene can lead to genetic disorders, and further research is needed to fully understand its function and potential therapeutic applications.