NESPAS gene
NESPAS is an atisense transcript at the GNAS locus, which is paternally imprinted and not translated. The transcript is involved in regulation of alllpha subunit G protein expression. Imprinting defects cause pseudohypoparathyroidism type 1B.
Genetests:
Related Diseases:
References:
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Wroe SF et al. (2000) An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus.
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Hayward BE et al. (2000) An imprinted antisense transcript at the human GNAS1 locus.
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Bastepe M et al. (2005) Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.
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Williamson CM et al. (2006) Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster.
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5. |
Tobi EW et al. (2009) DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specific.
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Update: Nov. 3, 2022