RRP7A

Chr 22AR

ribosomal RNA processing 7 homolog A

Also known as: BK126B4.3, CGI-96, MCPH28, Rrp7

NCBI Gene: 27341 ENSG00000189306 UniProt: Q9Y3A4 OMIM: 619449

RRP7A encodes a nucleolar protein that processes ribosomal RNA and is part of the small subunit processome involved in ribosome biogenesis, while also regulating primary cilia resorption and cell cycle progression during brain development. Mutations cause primary autosomal recessive microcephaly 28, inherited in an autosomal recessive pattern. The gene shows low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables RNA binding activity. Involved in cilium disassembly; protein localization to nucleolus; and ribosome biogenesis. Located in centrosome; cilium; and nucleolus. Part of small-subunit processome. Implicated in primary autosomal recessive microcephaly 28. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…