GENE REFERENCE / HGNC:11535
TAF1
TATA-box binding protein associated factor 1
What does this gene do?
The TAF1 gene provides instructions for making part of a protein called transcription factor IID (TFIID). This protein is active in cells and tissues throughout the body, where it attaches (binds) to DNA. Transcription factor IID plays an essential role in regulating the activity of most genes.
The TAF1 gene is part of a complex region of DNA known as the TAF1/DYT3 multiple transcript system. This region consists of short stretches of DNA from the TAF1 gene plus some extra segments of genetic material near the gene. These stretches of DNA can be combined in different ways to create various sets of instructions for making proteins. Researchers believe that some of these variations are critical for the normal function of nerve cells (neurons) in the brain.
Related condition topics
MedlinePlus mentions this gene in the condition pages below. These links alone do not show that the gene causes a condition.
ClinGen reviews
We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.
ClinVar records
These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.
- Submitted alleles
- 1,177
- Submissions for variants in or overlapping this gene
- 1,612
- Submissions explicitly reporting this gene
- 1,424
- Alleles reported pathogenic / likely pathogenic
- 42
- VariationIDs with uncertain significance
- 450
- VariationIDs with conflicting classifications
- 28
The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.
NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗
YOUR DNA FILE
Can your DNA file tell you about TAF1?
From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 42 alleles in TAF1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.
From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.
If a variant is not in your file, that does not mean you don’t have it.
What BioDecode checks
BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.
A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in TAF1.
BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.
Sources and dates
The source information on this page last changed on 2026-10-24.
HGNC Source details
Source release: Fri, 16 Oct 2026 13:36:12 GMT
Source record updated: 2023-03-15
SHA-256: 72bfe0c05800163c040a2cf663c70501f9ac9236469fbd0b552f2cd37a4d7f67
MedlinePlus Source details
Source release: Sat, 24 Oct 2026 05:15:45 GMT
Source publication: 2022-11-07
Source review: 2022-11
SHA-256: fdc8bd614310c12718379cef6569962e5d0e791cecabcc355b53a72816ac263a
ClinVar Source details
Source release: Mon, 19 Oct 2026 03:41:17 GMT
SHA-256: 9a8c00a7987db98812ad59025733fd9d491e66316267e09a482adcb8cce1d14e
About the library sources · Latest validated release · Record 312c17196ded