CDK13 (gene)
   HOME

TheInfoList



OR:

Cyclin dependent kinase 13 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 ''CDK13''
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 ...
. The protein encoded by this gene is a member of the cyclin-dependent serine/
threonine Threonine (symbol Thr or T) is an amino acid that is used in the biosynthesis of proteins. It contains an α-amino group (which is in the protonated −NH form under biological conditions), a carboxyl group (which is in the deprotonated −COO ...
protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. Some of the cell cycle control kinases are able to
phosphorylate In chemistry, phosphorylation is the attachment of a phosphate group to a molecule or an ion. This process and its inverse, dephosphorylation, are common in biology and could be driven by natural selection. Text was copied from this source, wh ...
proteins that are important for cell differentiation and
apoptosis Apoptosis (from grc, ἀπόπτωσις, apóptōsis, 'falling off') is a form of programmed cell death that occurs in multicellular organisms. Biochemical events lead to characteristic cell changes (morphology) and death. These changes incl ...
, thus provide connections between cell proliferation, differentiation, and apoptosis. Proteins of this family may also be involved in non-cell cycle-related functions, such as neurocytoskeleton dynamics. The exact function of this protein has not yet been determined. It has unusually large N- and C-termini and is ubiquitously expressed in many tissues. Two alternatively spliced variants are described.


Clinical significance

Mutations in ''CDK13'' cause CDK13-related disorder. A 2017 study of children with rare
developmental disorder Developmental disorders comprise a group of psychiatric conditions originating in childhood that involve serious impairment in different areas. There are several ways of using this term. The most narrow concept is used in the category "Specific Di ...
s found 11 children in the United Kingdom who had a fault in their ''CDK13'' gene. This fault affected the children's communication and language skills as well as causing learning difficulties.


References


External links

* *


Further reading

* * * * * * * * * * * * * * * * * * {{Portal bar, Biology, border=no EC 2.7.11