Lysine-specific demethylase 5C 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 ''KDM5C''
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 ...
.
KDM5C belongs to the
alpha-ketoglutarate-dependent hydroxylase Alpha-ketoglutarate-dependent hydroxylases are a major class of non-heme iron proteins that catalyse a wide range of reactions. These reactions include hydroxylation reactions, demethylations, ring expansions, ring closures, and desaturations. Func ...
superfamily.
Function
This gene is a member of the SMCY homolog family and encodes a protein with one
ARID domain
In molecular biology, the ARID domain (AT-rich interaction domain; also known as BRIGHT (B-cell Regulator of Ig Heavy chain Transcription) domain)) is a protein domain that binds to DNA. ARID domain-containing proteins are found in fungi, plants ...
, one JmjC domain, one JmjN domain and two
PHD-type zinc fingers. The DNA-binding motif suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with
X-linked intellectual disability
X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability.
As with most X-linked disorders, males are more heavily affected than females. Females with one aff ...
. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.
See also
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Xp11.2 duplication, section
''KDM5C''
References
Further reading
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External links
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Transcription factors
Genes on human chromosome X
Human 2OG oxygenases
EC 1.14.11
{{gene-X-stub