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SYCP3

Domain

Composed of a long central coiled coil domain. The N-terminal and C-terminal regions interact with DNA.

Function

Component of the synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for centromere pairing during meiosis in male germ cells (By similarity). Required for normal meiosis during spermatogenesis and male fertility (PubMed:14643120). Plays a lesser role in female fertility. Required for efficient phosphorylation of HORMAD1 and HORMAD2 (By similarity).

Involvement in disease

Spermatogenic failure 4

SPGF4

An infertility disorder characterized by azoospermia, a condition of having no sperm present in the ejaculate. Testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes.

None

The disease is caused by variants affecting the gene represented in this entry.

Pregnancy loss, recurrent, 4

RPRGL4

A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylated.

Sequence Similarities

Belongs to the XLR/SYCP3 family.

Tissue Specificity

Testis-specific.

Cellular localization

Alternative names

SCP3, SYCP3, Synaptonemal complex protein 3, SCP-3

swissprot:Q8IZU3 omim:604759 entrezGene:50511