GENE REFERENCE / HGNC:15889

FERMT1

FERM domain containing kindlin 1

protein-coding gene20p12.3Gene information

What does this gene do?

The FERMT1 gene provides instructions for making a protein called kindlin-1. This protein is found in epithelial cells, which are the cells that line the surfaces and cavities of the body. In the skin, kindlin-1 plays a critical role in specialized cells called keratinocytes, which are the major component of the outer layer of the skin (the epidermis).

Kindlin-1 is part of cell structures called focal adhesions. These structures contain many different kinds of proteins, which are involved in linking the cell's internal framework (the cytoskeleton) to the intricate lattice of proteins and other molecules that surrounds cells (the extracellular matrix). This linking is known as cell-matrix adhesion. Kindlin-1 attaches (binds) to and turns on (activates) proteins called integrins, which directly connect the cytoskeleton with the extracellular matrix and help transmit chemical signals into the cell.

As part of focal adhesions, Kindlin-1 is involved in several important cell functions, including cell growth and division (proliferation) and the movement (migration) of cells.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-03-17. Source review: 2016-06.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Kindler syndromeMONDO:0008260 · Evaluated 2026-04-08	Autosomal recessive	DefinitivePrimary Immune Regulatory Disorders Gene Curation Expert Panel

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: 671
Submissions for variants in or overlapping this gene: 997
Submissions explicitly reporting this gene: 958
Alleles reported pathogenic / likely pathogenic: 60
VariationIDs with uncertain significance: 252
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 FERMT1?

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 60 alleles in FERMT1 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 FERMT1.

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

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