PPP1R15B Chromosome 1

Protein phosphatase 1 regulatory subunit 15B
4 variants 4 Health Risk

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What This Gene Does
This gene encodes a protein phosphatase I-interacting protein that promotes the dephosphorylation of eukaryotic translation initiation factor 2A to regulate translation under conditions of cellular stress. The transcribed messenger RNA contains two upstream open reading frames (ORFs) that repress translation of the main protein coding ORF under normal conditions, while the protein coding ORF is expressed at high levels in response to stress. Continual translation of the mRNA under conditions of eukaryotic translation initiation factor 2A inactivation is thought to create a feedback loop for reactivation of the gene during recovery from stress. In addition, it has been shown that this protein plays a role in membrane traffic that is independent of translation and that it is required for exocytosis from erythroleukemia cells. Allelic variants of this gene are associated with microcephaly, short stature, and impaired glucose metabolism. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Protein phosphatase 1 regulatory subunits
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000158615
Associated Conditions (5)
PPP1R15B-related disorder
Inborn genetic diseases
Microcephaly
short stature
and impaired glucose metabolism 2
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS137955986 Health Risk Conflicting classifications of pathogenicity PPP1R15B-related disorder, PPP1R15B-related disorder
RS139539525 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PPP1R15B-related disorder, Inborn genetic diseases
RS759466766 Health Risk Conflicting classifications of pathogenicity
RS869025335 Health Risk Conflicting classifications of pathogenicity Microcephaly, short stature, and impaired glucose metabolism 2
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