LIPH Gene

LIPH (LIPH is the acronym for lipase H) is a protein-coding gene located on chromosome 3q27.2 that encodes a membrane-bound member of the mammalian triglyceride lipase family. The encoded enzyme catalyzes the production of 2-acyl lysophosphatidic acid (LPA), a potent bioactive lipid mediator. This has diverse biological properties such as platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. Furthermore, lipase exerts growth stimuli on the hard root cells.

Diseases associated with LIPH include.

• Autosomal recessive frizziness (also called hypotrichosis 7; OMIM 278150 - Mizukami Y et al. 2018; Lv H et al. 2020)

and

• Polygenic hypotrichosis hereditaria simplex.

Metabolic activities include lipoprotein metabolism and metabolism, and carbonic ester hydrolase activity.

1. Ahmad Fet al. (2018) Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. Congenit Anom (Kyoto) 58: 24-28.
2. Lv H et al. (2020) Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis. J Dermatol 47: 1445-1449.
3. Mizukami Y et al. (2018) Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review. J Dermatol 45: 613-617.