CIROZ

Cilia and flagella associated protein, formerly C1orf127; ZP-N domain-containing protein required for left-right organizer function

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000175262
OMIM:: 619700
Synonyms:: C1ORF127, FLJ37118

Phenotypes

Human ciliopathy phenotype:: Bi-allelic CIROZ inactivation variants cause heterotaxy with congenital heart defects in 16 individuals from 10 families.

Ciliopathy associations

Visceral Heterotaxy / Situs Inversus

References: PMID:39753129

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:39753129

Functional category

Development / LR asymmetry

Function

CIROZ (formerly C1orf127) encodes a protein with signal peptide and 3 zona pellucida N domains expressed specifically in the left-right organizer of mice, frogs, and fish. Forms a genetic module with DAND5, PKD1L1, MMP21, and CIROP in motile cilia of the LRO (Szenker-Ravi et al. 2025, PMID 39753129).

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