RRP7A Chromosome 22

Ribosomal RNA processing 7 homolog A
1 variant 1 Health Risk

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What This Gene Does
Enables RNA binding activity. Involved in cilium disassembly; protein localization to nucleolus; and ribosome biogenesis. Located in several cellular components, including centrosome; cilium; and nuclear lumen. Part of small-subunit processome. Implicated in primary autosomal recessive microcephaly 28. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"UTPc subcomplex|Ribosomal biogenesis factors"
Locus Type
gene with protein product
Location
22q13.2
Ensembl
ENSG00000189306
Associated Conditions (3)
Microcephaly 28
primary
autosomal recessive
Key Variants
RS1356719738
Pathogenic
Microcephaly 28, primary, autosomal recessive
Health Risk
All Variants (1)
RSID Category Clinical Significance Conditions
RS1356719738 Health Risk Pathogenic Microcephaly 28, primary, autosomal recessive
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