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LIPH encodes a membrane-bound member of the mammalian triglyceride lipase family. Additionally we are shipping LIPH Antibodies (19) and LIPH Kits (13) and many more products for this protein.
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We finally isolate control and Enpp2 (show ENPP2 Proteins)-null dermal pipilla precursors and identify the expression and upregulation of LIPH, an alternative LPA-producing enzyme, suggesting that this gene could functionally compensate for the absence of Enpp2 (show ENPP2 Proteins).
sequencing LIPH (show LIPC Proteins) identi fi ed a novel non-sense mutation (c.328C>T; p.Arg110*) in one and a previously reported 2-bp deletion mutation (c.659_660delTA, p.Ile220ArgfsX29) in three other families.
A heterozygous missense mutation c.736T>A (p.Cys246Ser) in exon 6 of the LIPH (show LIPC Proteins) gene of both the affected individuals was identified. In addition, we also found that both patients carried heterozygous sequences in exon 5 of the LIPH (show LIPC Proteins) gene.
The study further extends the body of evidence that sequence variants in the LIPH (show LIPC Proteins) gene result in hypotrichosis and woolly hair phenotype.
High LIPH (show LIPC Proteins) expression is associated with metastasis in breast cancer.
Mutation patterns of LIPH (show LIPC Proteins) might be associated with hypotrichosis severity in autosomal recessive woolly hair/hypotrichosis.
Immunohistochemistry detected LIPH (show LIPC Proteins) expression in most of the adenocarcinomas and bronchioloalveolar carcinomas obtained from lung cancer patients. LIPH (show LIPC Proteins) expression was also observed less frequently in the squamous lung cancer tissue samples.
Among South Indian subjects without diabetes, the rs1800588 C/T (C-480T) and rs6074 C/A (Thr479Thr) variants of the HL gene are associated with hypertriglyceridemia and low HDL (show HSD11B1 Proteins)-C, respectively. The TGC (show TGM2 Proteins) haplotype was significantly associated with low HDL (show HSD11B1 Proteins)-C
A case of Japanese siblings with autosomal recessive woolly hair associated with LIPH (show LIPC Proteins) gene homozygous mutation of c.736T > A is presented.
analysis of the LIPH (show LIPC Proteins) gene revealed homozygosity for a novel truncating mutation, as well as three previously identified mutations in affected individuals with autosomal recessive hypotrichosis and woolly hair.
the c.659_660delTA mutation in the LIPH (show LIPC Proteins) gene caused autosomal recessive wooly hair/hypotrichosis phenotype in the studied family.
Results show the LIPH mode of action and confirm the crucial role of LIPH in hair production.
association between a deletion of a single nucleotide in LIPH exon and rex phenotype
This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility.
, lipase member H
, LPD lipase-related protein
, mPA-PLA1 alpha
, membrane-associated phosphatidic acid-selective phospholipase A1-alpha
, membrane-bound phosphatidic acid-selective phospholipase A1
, phospholipase A1 member B
, lacrimal lipase