RRP7A

RRP7A (Ribosomal RNA Processing 7 Homolog A) is a Protein Coding gene. Among its related pathways are Gene Expression and rRNA processing in the nucleus and cytosol. Gene Ontology (GO) annotations related to this gene include nucleotide binding.

Full Name

Ribosomal RNA Processing 7 Homolog A

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).

Biological Process

Biological Process blastocyst formationIEA:Ensembl
Biological Process cilium disassemblyManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein localization to nucleolusManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process ribosomal small subunit assemblyManual Assertion Based On ExperimentIBA:GO_Central
Biological Process ribosome biogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process rRNA processingManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Nucleus, nucleolus
Cell projection, cilium
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome

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.