This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008].
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Ackema, Prescianotto-Baschong, Hench, Wang, Chia, Mergentaler, Bard, Frank, Spang: "Sar1, a Novel Regulator of ER-Mitochondrial Contact Sites." dans: PLoS ONE, Vol. 11, Issue 4, pp. e0154280, (2016) (PubMed).
Edgar: "The gene structure and expression of human ABHD1: overlapping polyadenylation signal sequence with Sec12." dans: BMC genomics, Vol. 4, Issue 1, pp. 18, (2003) (PubMed).
Synonymes et noms alternatifs relatifs à PREB
prolactin regulatory element binding (PREB), prolactin regulatory element binding (Preb), C85705, SEC12