K(lysine) acetyltransferase 6A (KAT6A), is an enzyme that, in humans, is encoded by the ''KAT6A''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
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+) which stabilizes the fold. The term ''zinc finger'' was originally coined to describe the finger-like appearance of a ...
and an
acetyltransferase
An acetyltransferase (also referred to as a transacetylase) is any of a class of transferase enzymes that transfers an acetyl group in a reaction called acetylation. In biological organisms, post-translational modification of a protein via acetyl ...
domain. This structure suggests that KAT6A functions as a
chromatin
Chromatin is a complex of DNA and protein found in eukaryote, 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 r ...
-bound
acetyltransferase
An acetyltransferase (also referred to as a transacetylase) is any of a class of transferase enzymes that transfers an acetyl group in a reaction called acetylation. In biological organisms, post-translational modification of a protein via acetyl ...
.
KAT6A is important for the proper development of
hematopoietic
Haematopoiesis (; ; also hematopoiesis in American English, sometimes h(a)emopoiesis) is the formation of blood cellular components. All cellular blood components are derived from haematopoietic stem cells. In a healthy adult human, roughly ten ...
stem cell
In multicellular organisms, stem cells are undifferentiated or partially differentiated cells that can change into various types of cells and proliferate indefinitely to produce more of the same stem cell. They are the earliest type of cell ...
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 D ...
, 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. Missense mutations change amino acids, which in turn al ...
,
nonsense
Nonsense is a form of communication, via speech, writing, or any other formal logic system, that lacks any coherent meaning. In ordinary usage, nonsense is sometimes synonymous with absurdity or the ridiculous. Many poets, novelists and songwri ...
, 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 natur ...
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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