GENE REFERENCE / HGNC:18483

LIPH

lipase H

protein-coding gene3q27.2Gene information

What does this gene do?

The LIPH gene provides instructions for making an enzyme called lipase H. This enzyme is found in many cells and tissues, where it breaks down the molecule phosphatidic acid into lysophosphatidic acid (LPA) and free fatty acid. LPA is a ligand, which means that it attaches (binds) to certain proteins called receptors. A ligand and its receptor fit together like a key in a lock. LPA has multiple receptors and is involved in many cellular functions, such as cell growth and division (proliferation), cell movement (migration), and the self-destruction of cells (apoptosis).

One of LPA's receptors, the LPA₆ protein, regulates the proliferation and maturation (differentiation) of cells within hair follicles, which are specialized structures in the skin where hair growth occurs. These cell processes are important for the normal development of hair follicles and for hair growth; as the cells in the hair follicle divide, the hair strand (shaft) is pushed upward and extends beyond the skin, causing the hair to grow. Lipase H is also found in the outermost layer of skin (the epidermis) and glands in the skin that produce a substance that protects the skin and hair (sebaceous glands).

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-12. Source review: 2013-04.

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: 190
Submissions for variants in or overlapping this gene: 233
Submissions explicitly reporting this gene: 183
Alleles reported pathogenic / likely pathogenic: 18
VariationIDs with uncertain significance: 75
VariationIDs with conflicting classifications: 0

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 LIPH?

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 18 alleles in LIPH 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 LIPH.

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

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