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A mutation in SYCE1 is associated with non-obstructive azoospermia.
Given the known function of the SYCE1 gene, we suggest that the nonsense mutation identified accounts for the primary ovarian insufficiency phenotype.
Genes involved in essential steps in chromosome synapsis and recombination during meiosis, such as synaptonemal complex central element 1 (SYCE1), have been shown to cause POI in animal models.
The localisation of Syce1 and Cesc1 (Syce2) to the central element depends on recruitment by Sycp1.
Mutation in the Syce1 results in disruption of synapsis.
Transcripts highly enriched in ovary; gene expressed in female germline in addition to male germline.
Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination (By similarity).
synaptonemal complex central element protein 1
, cancer/testis antigen 76
, telomeric protein