Publication: PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans
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Date
2019-05-01
Authors
Authors
GÜRAN, TÜLAY
YEŞİL, GÖZDE
Turan, Serap
Atay, Zeynep
BOZKURTLAR, EMİNE
Aghayev, AghaRza
Gul, Sinem
TİNAY, İLKER
Aru, Basak
Arslan, Sema
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Abstract
Context: Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants in PPP2R3C gene. This gene encodes B - gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of most mammalian cell types. PPP2R3C gene is most abundantly expressed in testis in humans, while its function was hitherto unknown.
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GÜRAN T., YEŞİL G., Turan S., Atay Z., BOZKURTLAR E., Aghayev A., Gul S., TİNAY İ., Aru B., Arslan S., et al., -PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans-, EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.180, ss.291-309, 2019