GENE REFERENCE / HGNC:6717

LTBP4

latent transforming growth factor beta binding protein 4

protein-coding gene19q13.2Gene information

What does this gene do?

The LTBP4 gene provides instructions for making a protein that has multiple functions in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. The LTBP4 protein controls the activity of a protein called transforming growth factor beta-1 (TGFβ-1) by attaching it to the extracellular matrix. This growth factor is turned off (inactivated) when stored in the extracellular matrix and turned on (activated) when released. When turned on, the TGFβ-1 protein triggers chemical signals that direct the functions of the body's cells during growth and development and that regulate the formation of the extracellular matrix.

The LTBP4 protein also plays a critical role in the formation of elastic fibers in the extracellular matrix. Elastic fibers are slender bundles of proteins that provide strength and flexibility to connective tissue, which supports organs and tissues such as the skin, lungs, heart, ligaments, and blood vessels.

Source: MedlinePlus, National Library of Medicine. Source publication: 2021-08-05. Source review: 2022-03.

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: 1,400
Submissions for variants in or overlapping this gene: 2,140
Submissions explicitly reporting this gene: 2,114
Alleles reported pathogenic / likely pathogenic: 78
VariationIDs with uncertain significance: 568
VariationIDs with conflicting classifications: 40

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 LTBP4?

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 78 alleles in LTBP4 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 LTBP4.

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

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