**Key characteristics:**
* The gene is approximately 2800 base pairs long.
* It contains a single exon that encodes a protein of approximately 100 amino acids.
* It is expressed in a variety of cell types, including stromal cells, lung ciliated cells, ON-bipolar cells, retinal rod cells, ciliated cells, retinal bipolar neurons, and glutamatergic neurons.
**Pathways and functions:**
* The protein encoded by ATP5F1BP1 is a subunit of the mitochondrial ATP synthase complex.
* The mitochondrial ATP synthase complex is responsible for generating adenosine triphosphate (ATP), the energy currency of cells.
* ATP is used by a variety of cellular processes, including muscle contraction, nerve signaling, and chemical synthesis.
**Clinical significance:**
* Mutations in the ATP5F1BP1 gene have been linked to several human diseases, including mitochondrial disorders and ciliopathies.
* These diseases are characterized by a variety of symptoms, including muscle weakness, respiratory problems, and vision problems.
* Targeting ATP5F1BP1 has been proposed as a therapeutic strategy for these diseases.
**Additional information:**
* The ATP5F1BP1 gene is also known as FLT3.
* It is a member of the ATP synthase F1 family of genes.
* It is expressed in high levels in healthy tissues, but its expression is often increased in diseases.
Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.
