RRP7A
Function
Nucleolar protein that is involved in ribosomal RNA (rRNA) processing (PubMed:33199730). Also plays a role in primary cilia resorption, and cell cycle progression in neurogenesis and neocortex development (PubMed:33199730). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797).
Involvement in disease
Microcephaly 28, primary, autosomal recessive
MCPH28
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH28 is an autosomal recessive form characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the RRP7 family.
Tissue Specificity
Expressed in the apical radial glial cells in the developing brain.
Cellular localization
- Nucleus
- Nucleolus
- Cell projection
- Cilium
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
Alternative names
CGI-96, RRP7A, Ribosomal RNA-processing protein 7 homolog A, Gastric cancer antigen Zg14