DZIP1 Chromosome 13
DAZ interacting zinc finger protein 1
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What This Gene Does
Enables BBSome binding activity and molecular adaptor activity. Involved in cilium organization; heart development; and protein-containing complex localization to centriolar satellite. Located in cytosol; microtubule organizing center; and nucleoplasm. Implicated in mitral valve prolapse and spermatogenic failure 47. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
13q32.1
Ensembl
ENSG00000134874
Associated Conditions (1)
Spermatogenic failure 47
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1877018344 | Health Risk | Pathogenic | Spermatogenic failure 47, Spermatogenic failure 47 |
| RS1878524886 | Health Risk | Pathogenic | Spermatogenic failure 47, Spermatogenic failure 47 |