Tectonin beta-propeller repeat containing 1

Tectonin beta-propeller repeat containing 1 (also known as TECPR1) is a protein that in humans is encoded by the TECPR1 gene. It is a member of the tectonin family of proteins, which are characterized by the presence of multiple beta-propeller repeats.

Function

TECPR1 is involved in the regulation of autophagy, a cellular process that breaks down and recycles unnecessary or dysfunctional components. It specifically interacts with the autophagosome, a structure that encapsulates the material to be degraded. TECPR1 is thought to play a role in the maturation of autophagosomes and their fusion with lysosomes, the cell's waste disposal system.

Clinical significance

Mutations in the TECPR1 gene have been associated with a form of hereditary spastic paraplegia (HSP), a group of inherited disorders characterized by progressive weakness and stiffness of the legs. This form of HSP, known as SPG49, is a complex type that also involves intellectual disability and other neurological problems.

Research

Research into TECPR1 is ongoing, with studies investigating its role in autophagy and its potential as a therapeutic target in diseases such as cancer and neurodegenerative diseases.

See also

• Autophagy
• Hereditary spastic paraplegia
• Tectonin

References

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