Ciliary rootlet coiled-coil protein-like 1 (CROCCP2)

Ciliary rootlet coiled-coil protein-like 1 (CROCCP2) is a human-specific gene duplicate derived from the ciliary rootlet coiled-coil gene (CROCC), also known as rootletin. CROCCP2 encodes a short protein (~111 amino acids) whose sequence corresponds to a central segment of the coiled-coil domain of CROCC. Unlike classical pseudogenes, CROCCP2 is transcribed and translated in humans, with verified peptide products identified in proteomic datasets. CROCCP2 is abundantly and specifically expressed in the developing human cerebral cortex, where it modulates primary cilium length and dynamics in cortical progenitors. Its expression leads to inhibition of the IFT20 ciliary trafficking protein, reduction of ciliogenesis, and amplification of basal progenitors, linked to increased mTOR signaling. CROCCP2 loss of function results in increased primary cilia length, reduced mTOR activity, and impaired basal progenitor expansion. The gene does not act as a classical therapeutic target (e.g., not a receptor, enzyme, transporter), and there are no known clinical drugs, biomarkers, or safety challenges associated with its modulation. Its significance lies mainly in research into human brain development, evolution, and neurogenesis[1][3].

Other names

CROCCP2CROCCL1MGC12760Ciliary rootlet coiled-coil protein pseudogene 2Putative ciliary rootlet coiled-coil protein-like 1 protein