Recombinant Human Lipase member H (LIPH)

1. Two mutants of LIPH lead to secretion defects of LIPH, which are involved in the pathogenesis of Autosomal recessive woolly hair/hypotrichosis. PMID: 29346610
2. Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in three consanguineous Pakistani families. PMID: 28425126
3. The present study shows 93% of Japanese patients with ARWH had at least one of the two founder mutations in exon 6 of LIPH. Highly prevalent founder mutations in LIPH. PMID: 27641630
4. The authors report no apparent decrease in total hair count but remarkable miniaturization and increased telogen/anagen hair ratio in patients homozygous mutations in LIPH. PMID: 27375176
5. This meta-analysis demonstrates that the T allele in the LIPC rs493258 polymorphism was significantly associated with the risk of any and late age related macular degeneration PMID: 27763569
6. Our data suggest that LIPH may have prognostic value for esophageal cancer. PMID: 26341494
7. sequencing LIPH 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. PMID: 24628704
8. A heterozygous missense mutation c.736T>A (p.Cys246Ser) in exon 6 of the LIPH 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 gene. PMID: 25899282
9. The study further extends the body of evidence that sequence variants in the LIPH gene result in hypotrichosis and woolly hair phenotype. PMID: 26645693
10. c.460_461AG>GA (p.Ser154Asp) in exon 3 and c.742C>A (p.His248Asn) in exon 6 associated with autosomal recessive woolly hair PMID: 25201209
11. High LIPH expression is associated with metastasis in breast cancer. PMID: 25123262
12. Mutation patterns of LIPH might be associated with hypotrichosis severity in autosomal recessive woolly hair/hypotrichosis. PMID: 24586639
13. Immunohistochemistry detected LIPH expression in most of the adenocarcinomas and bronchioloalveolar carcinomas obtained from lung cancer patients. LIPH expression was also observed less frequently in the squamous lung cancer tissue samples. PMID: 24380866
14. 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-C, respectively. The TGC haplotype was significantly associated with low HDL-C PMID: 23550552
15. A case of Japanese siblings with autosomal recessive woolly hair associated with LIPH gene homozygous mutation of c.736T > A is presented. PMID: 23590372
16. analysis of the LIPH 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. PMID: 23066499
17. The beta9 loop domain of PA-PLA1alpha has a crucial role in autosomal recessive woolly hair/hypotrichosis [case report] PMID: 22475755
18. the c.659_660delTA mutation in the LIPH gene caused autosomal recessive wooly hair/hypotrichosis phenotype in the studied family. PMID: 22125978
19. 736T>A transition is highly specific and common in autosomal recessive woolly hair/hypotrichosis of Japanese origin. PMID: 21352330
20. A phosphatidic acid-phospholipase A1alpha-lysophosphatidic acid-P2Y5 axis regulates differentiation of hair follicles via a tumour necrosis factor alpha converting enzyme-transforming growth factor alpha-epidermal growth factor receptor pathway. PMID: 21857648
21. Mutations identified in the present study extend the body of evidence implicating LPAR6 and LIPH genes in pathogenesis of human hereditary hair loss. PMID: 21426374
22. The results suggest defective activation of P2Y5 due to reduced 2-acyl lysophosphatidic acid production by the mutant PA-PLA1a that are encoded by LIPH is involved in the pathogenesis of ARH. PMID: 20213768
23. Studied five consanguineous Pakistani families with autosomal recessive hypotrichosis and identified a novel splice site and two previously reported mutations in the LIPH gene. PMID: 20107739
24. these findings not only expand the spectrum of LIPH mutations, but also provide a better understanding of the crucial role of the LIPH/LPA/P2Y5 signaling in hair growth in humans. PMID: 19892526
25. PA-selective PLA(1) has a role in LPA production. PMID: 12063250
26. mRNA expressed in intestine, lung, and pancreas. Lipase H protein was also detected in human intestine. PMID: 12213196
27. individuals with an inherited form of hair loss and a hair growth defect were homozygous for a deletion in the LIPH gene on chromosome 3q27; results suggest that lipase H participates in hair growth and development PMID: 17095700
28. identification of a novel deletion mutation in exon 2 of LIPH gene in a Pakistani family with autosomal recessive hypotrichosis PMID: 17333281
29. a novel deletion mutation in exon 5 (c.659-660delTA) causing frameshift and downstream premature termination codon causes autosomal recessive hypotrichosis (LAH2) PMID: 18445047
30. The deletion mutation (c.682delT) reported lies between beta9 and lid loops and changes the reading frame after 31 amino acids, thereby eliminating the lid peptide sequence required for substrate recognition in combination with beta9 loop. PMID: 18795930
31. gene duplication mutation in exon 2 was found to segregate with hypotrichosis in consanguineous and distantly related Izraeli families PMID: 18820939
32. LIPH is a second causative gene for ARWH/hypotrichosis, giving rise to a phenotype clinically indistinguishable from P2RY5 mutations PMID: 18830268
33. The mutations reported here are the first missense mutations identified in the LIPH gene, which extend the body of evidences implicating the LIPH gene in the pathogenesis of human hereditary hair loss. PMID: 19167195
34. crucial role of LIPH gene in hair growth. PMID: 19262606
35. Our study increases the spectrum of known LIPH mutations and provides biochemical evidence for the important role of lipase H and its product LPA in human hair growth PMID: 19536142
36. Mutations in LIPH result in variable degrees of hypotrichosis simplex, woolly hair is an essential component of the clinical spectrum;hot spot in the LIPH gene may be c.280_369dup in exon 2 PMID: 19766349

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HGNC: 18483

OMIM: 604379

KEGG: hsa:200879

STRING: 9606.ENSP00000296252

UniGene: Hs.68864