Protein kinase C and casein kinase substrate in neurons protein 3 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. A ...
that in humans is encoded by the ''PACSIN3''
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 ba ...
.
Human disease
Biallelic truncating variants in the PACSIN3 gene has been associated with hyperCKemia and childhood onset myopathy
Interactions
PACSIN3 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with
PACSIN1
Protein kinase C and casein kinase substrate in neurons protein 1 is an enzyme that in humans is encoded by the ''PACSIN1'' gene.
This is nonsense.
Please see the scientific literature on Syndapin I in the PubMED database of scientific literature ...
and
PACSIN2
Protein kinase C and casein kinase substrate in neurons protein 2 (Pacsin 2) is a protein that in humans is encoded by the ''PACSIN2'' gene. Pacsin 2 is involved in the formation of caveolae
In biology, caveolae ( Latin for "little caves"; singula ...
.
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References
Further reading
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Felix Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, Annette Seibt, Andrea Gangfuß, Heike Kölbel, Ulrike Schara-Schmidt, Deniz Yuksel, Beril Talim, Ertan Mayatepek, Stefan Nikolin, Joachim Weis, Andreas Roos, Tobias B Haack, Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia, Brain, 2024;, awae099, https://doi.org/10.1093/brain/awae099
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