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Ciliated left-right organizer protein containing ZP-N domains (CIROZ)
- Target
- CIROZ
- Molecular classification
- Other (zona pellucida domain–containing extracellular protein)
01
Overview
CIROZ encodes a protein expressed specifically in the ciliated left-right organizer of vertebrate embryos, where it helps break bilateral symmetry by contributing to left-right axis specification. The protein contains a signal peptide and three zona pellucida N (ZP-N) domains, indicating it is likely secreted or extracellular and homologous to ZP glycoproteins such as ZP2. Loss-of-function mutations in CIROZ can cause heterotaxy syndrome with congenital heart defects in humans and left-right patterning defects in mice. However, this function is not universally conserved across vertebrates, as knockout studies in zebrafish and Xenopus do not show laterality defects, and the gene is pseudo-genized in some mammalian lineages (Laurasiatheria). CIROZ is not considered a drug target and is not implicated directly in pharmacology or therapeutics.
- Other names
- C1orf127HTX14FLJ37118uncharacterized protein C1orf127Ciliated left-right organizer ZP-N domains-containing proteinCIROZ
02
Biological functions
Establishment of left-right asymmetry in embryogenesisExtracellular matrix organization in the ciliated left-right organizer
03
Disease associations
Heterotaxy syndrome (congenital heart defects related to laterality defects)
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