NBR1
NBR1
NBR1 is a protein-coding gene located on chromosome 2 in humans. It plays a crucial role in cellular processes and has been linked to various biological functions.
Function[edit | edit source]
NBR1 encodes a protein that functions as an autophagy receptor, facilitating the degradation of cellular components through the autophagy-lysosomal pathway. This process is essential for maintaining cellular homeostasis and eliminating damaged organelles and proteins.
Structure[edit | edit source]
The NBR1 gene consists of several exons that encode a protein with specific domains responsible for interacting with autophagy machinery and cargo. These domains include the Phox and Bem1p (PB1) domain and the LC3-interacting region (LIR).
Role in Disease[edit | edit source]
Mutations in NBR1 have been associated with certain neurodegenerative disorders and cancer. Dysregulation of autophagy due to NBR1 dysfunction can lead to the accumulation of toxic protein aggregates and contribute to disease pathogenesis.
Interactions[edit | edit source]
NBR1 interacts with various proteins involved in autophagy, such as LC3 and p62, to facilitate the recognition and targeting of cargo for degradation. These interactions are crucial for the efficient clearance of cellular waste.
Clinical Significance[edit | edit source]
Understanding the role of NBR1 in autophagy regulation has implications for developing therapeutic strategies for diseases characterized by impaired autophagic flux. Targeting NBR1 and its associated pathways could offer potential treatment options for such conditions.
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD