SYCP2L
Function
Oocyte-specific protein that localizes to centromeres at the dictyate stage and regulates the survival of primordial oocytes.
Involvement in disease
Premature ovarian failure 24
POF24
A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF24 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SYCP2 family.
Tissue Specificity
Expressed in the ovary (at protein level) (PubMed:17374641). In the ovaries, expressed in oocytes, including germinal vesicle oocytes, metaphase I and metaphase II oocytes (PubMed:32303603). Also expressed in testis (PubMed:32303603).
Cellular localization
- Nucleus
- Chromosome
- Centromere
- Localized to the synaptonemal complex lateral elements in late diplotene oocytes, while it is absent on the synaptonemal complex of leptotene, zygotene, pachytene and early diplotene oocytes (By similarity). Localizes to centromeres in dictyate oocytes (By similarity). Detected in nuclear granules and sizable aggregates (PubMed:17374641).
Alternative names
C6orf177, NO145, SYCP2L, Synaptonemal complex protein 2-like, SCP-2-like, 145 kDa nucleolar protein homolog, hsNO145