Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform
Function
The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.
Involvement in disease
Houge-Janssens syndrome 1
HJS1
An autosomal dominant disorder characterized by global developmental delay, hypotonia, variably impaired intellectual development, poor speech, and dysmorphic facial features. Additional more variable features may include macrocephaly and seizures.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the phosphatase 2A regulatory subunit B56 family.
Tissue Specificity
Isoform Delta-2 is widely expressed. Isoform Delta-1 is highly expressed in brain.
Cellular localization
- Cytoplasm
- Nucleus
- Nuclear in interphase, nuclear during mitosis.
Alternative names
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform, PP2A B subunit isoform B'-delta, PP2A B subunit isoform B56-delta, PP2A B subunit isoform PR61-delta, PP2A B subunit isoform R5-delta, PPP2R5D