PPP1R15B
Function
Maintains low levels of EIF2S1 phosphorylation in unstressed cells by promoting its dephosphorylation by PP1.
Involvement in disease
Microcephaly, short stature, and impaired glucose metabolism 2
MSSGM2
An autosomal recessive disease characterized by microcephaly, intellectual disability, short stature, and disturbed glucose metabolism.
None
The disease is caused by variants affecting the gene represented in this entry.
Defects in PPP1R15B has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea.
Sequence Similarities
Belongs to the PPP1R15 family.
Alternative names
Protein phosphatase 1 regulatory subunit 15B, PPP1R15B