CEP19 Chromosome 3
Centrosomal protein 19
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What This Gene Does
The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]
Associated Conditions (2)
Obesity due to CEP19 deficiency
Bardet-Biedl syndrome
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS368514311 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587777230 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to CEP19 deficiency, Obesity due to CEP19 deficiency |
| RS1553794304 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |