KAT6A KAT6A
Approximate pronunciation (generated from the name, not a recording):
- KAT6A kat-six-ay
No plain-language summary is available for this gene. Reference data and trusted sources are listed below.
Details you may see on a test report
These names and numbers are the technical ones doctors and labs use. You do not need to memorize them.
Location
This is where the gene sits on its chromosome, so you can match it to coordinates on a test report.
8p11.21 · GRCh38 chr8:41,929,479–42,051,998
Open in Ensembl (primary) or UCSC Genome Browser (secondary).
Source: HGNC (HGNC:13013).
Recommended transcript
This is the reference transcript labs use when they report a change in this gene.
- MANE Select
NM_006766.5(RefSeq) /ENST00000265713.8(Ensembl)
Source: NCBI MANE.
Protein domains
These are the working parts of the protein, with the amino-acid positions each one covers.
- Histone acetyltransferase domain, MYST-type — amino acids 504–778
- Linker histone H1/H5, domain H15 — amino acids 85–171
- Zinc finger, PHD-finger — amino acids 206–265, 262–313
- MYST, zinc finger domain — amino acids 506–560
- SAM domain-containing protein 1-like, WH domain — amino acids 1–77
Protein structure
This lets you look at the protein's 3D shape if you want to.
View the predicted structure in AlphaFold, or search the PDB for solved structures.
Source: UniProt (Q92794).
Reported gene variants
ClinVar collects gene variants people have reported; it is a place to search, not a list on this page.
This page does not list individual variants. Search ClinVar for KAT6A instead.
Source: ClinVar.
Words you may meet
Some technical words appear in the sections above and in the details below. Here is what they mean, in words from a public genetics glossary.
- Chromosome
- Chromosomes are threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic information from cell to cell. In plants and animals (including humans), chromosomes reside in the nucleus of cells. Humans have 22 pairs of numbered chromosomes (autosomes) and one pair of sex chromosomes (XX or XY), for a total of 46. Each pair contains two chromosomes, one coming from each parent, which means that children inherit half of their chromosomes from their mother and half from their father. Chromosomes can be seen through a microscope when the nucleus dissolves during cell division. NHGRI Talking Glossary of Genomic and Genetic Terms
- Protein
- Proteins are large, complex molecules that play many important roles in the body. They are critical to most of the work done by cells and are required for the structure, function and regulation of the body’s tissues and organs. A protein is made up of one or more long, folded chains of amino acids (each called a polypeptide), whose sequences are determined by the DNA sequence of the protein-encoding gene. NHGRI Talking Glossary of Genomic and Genetic Terms
- Mutation
- A mutation is a change in the DNA sequence of an organism. Mutations can result from errors in DNA replication during cell division, exposure to mutagens or a viral infection. Germline mutations (that occur in eggs and sperm) can be passed on to offspring, while somatic mutations (that occur in body cells) are not passed on. NHGRI Talking Glossary of Genomic and Genetic Terms
- Pathogenic Variant
- A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease. In many cases, carrying a pathogenic variant does not guarantee that a person will develop the specific condition but increases the risk for it. Pathogenic variants can be inherited from a parent or can occur spontaneously due to factors such as environmental exposure and aging. NHGRI Talking Glossary of Genomic and Genetic Terms
- Genetic Testing
- Genetic testing is the use of a laboratory test to examine an individual’s DNA for variations, typically performed in the context of medical care, ancestry studies or forensics. In a medical setting, the results of a genetic test can be used to confirm or rule out a suspected genetic disease. Results may also be used to determine the likelihood of parents passing on a genetic mutation to their offspring. Genetic testing may be performed prenatally or after birth. Genetic testing is also used to study the genomes of tumors in cancer cases. NHGRI Talking Glossary of Genomic and Genetic Terms
Where to go next
- NORD: KAT6A Syndrome — The National Organization for Rare Disorders report on KAT6A syndrome.
- KAT6 Foundation — The patient advocacy organization for KAT6A and KAT6B.
- GARD: KAT6A syndrome (Arboleda-Tham syndrome) — The Genetic and Rare Diseases Information Center's plain-language page for KAT6A syndrome (Arboleda-Tham syndrome).
- Search ClinicalTrials.gov for KAT6A syndrome — Look for studies that are recruiting people with KAT6A syndrome.
- Find a Genetic Counselor (NSGC) — Find a genetic counselor near you.
What this page is not
This page is for education only. It is not medical advice, and it is not a diagnosis or a treatment plan. Talk with a doctor or a genetic counselor about your family's situation.