SYCE1 Chromosome 10
Synaptonemal complex central element protein 1
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What This Gene Does
This gene encodes a member of the synaptonemal complex, which links homologous chromosomes during prophase I of meiosis. The tripartite structure of the complex is highly conserved amongst metazoans. It consists of two lateral elements and a central region formed by transverse elements and a central element. The protein encoded by this gene localizes to the central element and is required for initiation and elongation of the synapsis. Allelic variants of this gene have been associated with premature ovarian failure and spermatogenic failure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Associated Conditions (2)
Spermatogenic failure 15
Premature ovarian failure 12
Key Variants
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1589966038 | Health Risk | Pathogenic | — |
| RS774225566 | Health Risk | Pathogenic | Spermatogenic failure 15, Spermatogenic failure 15 |
| RS779142116 | Health Risk | Pathogenic | — |
| RS875989885 | Health Risk | Pathogenic | Premature ovarian failure 12, Premature ovarian failure 12 |