Synaptonemal complex central element protein 1

Synaptonemal complex central element protein 1 is a protein that in humans is encoded by the SYCE1 gene. [5]

SYCE1
Identifiers
AliasesSYCE1, C10orf94, CT76, synaptonemal complex central element protein 1, POF12, SPGF15
External IDsOMIM: 611486; MGI: 1921325; HomoloGene: 77044; GeneCards: SYCE1; OMA:SYCE1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_201564
NM_001143763
NM_001143764
NM_130784

NM_001143765

RefSeq (protein)

NP_001137235
NP_570140
NP_001137236

NP_001137237

Location (UCSC)Chr 10: 133.55 – 133.57 MbChr 7: 140.36 – 140.37 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Primary ovarian insufficiency can be caused by mutations in genes involved in essential steps in chromosome synapsis and recombination during meiosis. Mutation in the autosomal gene SYCE1 that encodes synaptonemal complex element 1 protein causes a primary ovarian insufficiency phenotype in humans.[6] This finding highlights the importance of the synaptonemal complex and meiosis for ovarian function.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171772Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025480Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Synaptonemal complex central element protein 1". Retrieved 2017-01-21.
  6. ^ de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L (October 2014). "Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency". J. Clin. Endocrinol. Metab. 99 (10): E2129–32. doi:10.1210/jc.2014-1268. PMID 25062452.

Further reading

edit
  • de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L (2014). "Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency". J. Clin. Endocrinol. Metab. 99 (10): E2129–32. doi:10.1210/jc.2014-1268. PMID 25062452.