Ribosomal RNA-processing protein 7 homolog A (RRP7A)

Ribosomal RNA-processing protein 7 homolog A (RRP7A) is a nucleolar RNA-binding protein essential for the maturation of ribosomal RNA, the assembly of the ribosome’s small subunit processome, and for ribosome biogenesis. RRP7A is involved in the resorption of primary cilia and cell cycle progression, particularly in neurogenesis and development of the neocortex. Mutations in RRP7A cause defects in ribosomal RNA processing and cell cycle regulation, leading to primary autosomal recessive microcephaly characterized by reduced brain size and cognitive impairment. RRP7A localizes to centrosomes, cilia, and nucleoli, integrating functions crucial for neural tissue development. No therapeutics currently target RRP7A directly, but its genetic status serves as a cause and marker for specific developmental brain disorders.

Other names

CGI-96BK126B4.3Rrp7CTA-126B4.3MCPH28gastric cancer antigen Zg14