SPATA7

SPATA7 (Spermatogenesis-associated protein 7) is a protein encoded by the SPATA7 gene in humans. This protein is involved in the development and function of the retina and is associated with certain forms of retinal dystrophy.

Structure

The SPATA7 protein is composed of 599 amino acids and has a molecular weight of approximately 68 kDa. It contains several domains that are crucial for its function in the retina, including a coiled-coil domain that may facilitate protein-protein interactions.

Function

SPATA7 is primarily expressed in the retina, where it plays a critical role in the maintenance of photoreceptor cells. It is involved in the phototransduction pathway, which is essential for converting light into electrical signals in the eye. SPATA7 is thought to be part of a protein complex that is necessary for the proper trafficking of proteins to the photoreceptor outer segments.

Clinical Significance

Mutations in the SPATA7 gene are associated with Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP). These are inherited retinal dystrophies that lead to severe vision impairment or blindness. LCA is characterized by severe visual impairment from birth, while RP typically presents with night blindness and progressive loss of peripheral vision.

Genetic Mutations

Several mutations in the SPATA7 gene have been identified, including missense, nonsense, and frameshift mutations. These mutations disrupt the normal function of the SPATA7 protein, leading to the degeneration of photoreceptor cells in the retina.

Research

Ongoing research is focused on understanding the precise molecular mechanisms by which SPATA7 mutations lead to retinal degeneration. Studies are also exploring potential gene therapy approaches to restore SPATA7 function in affected individuals.

Also see

• Retinal dystrophy
• Photoreceptor cell
• Leber congenital amaurosis
• Retinitis pigmentosa