Kat6a
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Names in other languages
- DeutschKat6a
- EnglishKat6a
- EspañolKat6a
- FrançaisKat6a
- NederlandsKat6a
- PortuguêsKat6a
- srnKat6a
- SvenskaKat6a
Article bodies are English and are not machine-translated. A name in another language is not a translation of the article.
K(lysine) acetyltransferase 6A (KAT6A), is an enzyme that, in humans, is encoded by the KAT6A gene. This gene is located on human chromosome 8, band 8p11.21.
K(lysine) acetyltransferase 6A (KAT6A), is an enzyme that, in humans, is encoded by the KAT6A gene. This gene is located on human chromosome 8, band 8p11.21.
Arboleda-Tham syndrome
Arboleda-Tham syndrome (ARTHS), also referred to as KAT6A Syndrome (Arboleda-Tham Syndrome), is a rare autosomal dominant developmental disorder, caused by various missense, nonsense, and frameshift mutations in the KAT6A gene. The main characteristics of this syndrome are developmental delay, impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications.
References
Further reading
Text derived from https://en.wikipedia.org/w/index.php?oldid=1378905903 under CC BY-SA 4.0; modifications have been made.