Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...
that in humans is encoded by the ''PPP2R5D''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Mutations in ''PPP2R5D'' cause
Jordan's Syndrome
Jordan's Syndrome (JS) or ''PPP2R5D''-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by ''de novo'' mutations in the ''PPP2R5D'' gene. It is characterized by hypotonia, intellectual disability, a ...
.
Function
The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified.
Interactions
PPP2R5D has been shown to
interact
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with:
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HAND2
Heart- and neural crest derivatives-expressed protein 2 is a protein that in humans is encoded by the ''HAND2'' gene.
Function
The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene p ...
,
*
PPP2CA
Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform is an enzyme that (in humans) is encoded by the ''PPP2CA'' gene.
Function
This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the fou ...
,
References
Further reading
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