GENE REFERENCE / HGNC:6345

KLF1

KLF transcription factor 1

protein-coding gene19p13.13Gene information

What does this gene do?

The KLF1 gene provides instructions for making a protein that acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Specifically, the KLF1 protein helps control the activity of genes that are involved in the differentiation of red blood cells by regulating the final stages of red blood cell development (erythropoiesis).

The KLF1 protein plays an important role in the production of hemoglobin, which is the protein in red blood cells that carries oxygen to cells and tissues throughout the body. During development, the KLF1 protein regulates the switch from the production of fetal hemoglobin, which is prevalent during embryonic development and early infancy, to the adult form of hemoglobin, which is produced throughout life.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-03-04. Source review: 2025-03.

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: 279
Submissions for variants in or overlapping this gene: 419
Submissions explicitly reporting this gene: 381
Alleles reported pathogenic / likely pathogenic: 30
VariationIDs with uncertain significance: 137
VariationIDs with conflicting classifications: 16

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 ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about KLF1?

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 30 alleles in KLF1 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 KLF1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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