APTR
Description
The APTR (Alu-mediated CDKN1A/p21 transcriptional regulator) is a ncRNA gene located on chromosome 7.
APTR is a gene that encodes a protein called the alpha-adaptin subunit of the adaptor protein complex 2 (AP-2). AP-2 is a heterotetrameric complex that plays a crucial role in clathrin-mediated endocytosis, a process by which cells internalize various molecules from their surroundings. The AP-2 complex binds to specific cargo proteins and recruits them into clathrin-coated pits, which are invaginations of the plasma membrane that ultimately pinch off to form vesicles. These vesicles then deliver their cargo to different destinations within the cell. APTR is an essential component of AP-2 and is required for its proper function.
The protein encoded by this gene is a member of the adaptor protein (AP) complex 2 (AP-2) family. AP-2 is a heterotetrameric complex that plays a critical role in clathrin-mediated endocytosis. It recognizes and binds to specific cargo proteins, which are then incorporated into clathrin-coated pits. The encoded protein, which is one of the subunits of AP-2, is involved in the recruitment of the AP-2 complex to the plasma membrane, and in the sorting of cargo proteins into clathrin-coated vesicles. Mutations in this gene have been associated with the autosomal recessive neurological disorder, autosomal recessive cerebellar ataxia, mental retardation, and seizures (ARCAS).
APTR is also known as RSBN1L-AS1.
Associated Diseases
- Ehlers-Danlos syndrome, musculocontractural type
- leiomyoma
- breast angiosarcoma
- glioblastoma
- cystic fibrosis
- cancer
- COVID-19
