K(lysine) acetyltransferase 6A (KAT6A), is an enzyme that, in humans, is encoded by the ''KAT6A''
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 ...
.
This gene is located on human chromosome 8, band 8p11.21.
Protein function
The KAT6A protein contains two nuclear localization domains, a C
2HC
3 zinc finger
A zinc finger is a small protein structural motif that is characterized by the coordination of one or more zinc ions (Zn2+) in order to stabilize the fold. It was originally coined to describe the finger-like appearance of a hypothesized struct ...
and an
acetyltransferase
Acetyltransferase (or transacetylase) is a type of transferase enzyme that transfers an acetyl group.
Examples include:
* Histone acetyltransferases including CBP histone acetyltransferase
* Choline acetyltransferase
* Chloramphenicol acetyltransf ...
domain. This structure suggests that KAT6A functions as a
chromatin
Chromatin is a complex of DNA and protein found in eukaryotic cells. The primary function is to package long DNA molecules into more compact, denser structures. This prevents the strands from becoming tangled and also plays important roles in r ...
-bound
acetyltransferase
Acetyltransferase (or transacetylase) is a type of transferase enzyme that transfers an acetyl group.
Examples include:
* Histone acetyltransferases including CBP histone acetyltransferase
* Choline acetyltransferase
* Chloramphenicol acetyltransf ...
.
KAT6A is important for the proper development of
hematopoietic
Haematopoiesis (, from Greek , 'blood' and 'to make'; also hematopoiesis in American English; sometimes also h(a)emopoiesis) is the formation of blood cellular components. All cellular blood components are derived from haematopoietic stem cells. ...
stem cell
In multicellular organisms, stem cells are undifferentiated or partially differentiated cells that can differentiate into various types of cells and proliferate indefinitely to produce more of the same stem cell. They are the earliest type o ...
s.
Arboleda-Tham syndrome
Arboleda-Tham syndrome (ARTHS), also referred to as KAT6A Syndrome (Arboleda-Tham Syndrome), is a rare autosomal dominant
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 ...
, caused by various
missense
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution.
Substitution of protein from DNA mutations
Missense mu ...
,
nonsense
Nonsense is a communication, via speech, writing, or any other symbolic system, that lacks any coherent meaning. Sometimes in ordinary usage, nonsense is synonymous with absurdity or the ridiculous
To be ridiculous is to be something which is ...
, and
frameshift mutation
A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels ( insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature ...
s in the KAT6A gene. The main characteristics of this syndrome are developmental delay, impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications.
[Kennedy, J., Goudie, D., Blair, E. et al. KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med 21, 850–860 (2019). https://doi.org/10.1038/s41436-018-0259-2]
References
Further reading
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