Protein Domain : Neuroendocrine secretory protein 55 IPR009434

Type  Family
Description  The imprinted GNAS cluster, located on chromosome 2 in mice and chromosome 20 in humans, contains transcripts that are maternally, paternally, and/or biallelically expressed. Neuroendocrine secretory protein 55 (NESP55) is encoded by an upstream exon of the GNAS1 gene, which is expressed exclusively from the maternal allele [ ]. It is a neuroendocrine secretory granule protein originally identified by screening cDNA libraries from bovine chromaffin cells with antibody against secretogranin II []. It belongs to the granin family, whose members are involved in endocrine and neuronal secretory pathways [].NESP55 has been shown to act as biomarkers for endocrine and neuroendocrine tumours and implicated in cell growth [ ]. It has been linked to pseudohypoparathyroidism type Ib (PHP-1b), an imprinted human disorder associated with methylation changes at one or several differentially methylated regions at the GNAS locus [].
Short Name  NESP55

0 Child Features

0 Gene Families

0 Genes

1 Ontology Annotations

0 Parent Features

0 Publications

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