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    LIPH lipase H [ Homo sapiens (human) ]

    Gene ID: 200879, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Circular RNA eukaryotic translation initiation factor 6 facilitates TPC-1 cell proliferation and invasion through the microRNA-138-5p/lipase H axis.

    Circular RNA eukaryotic translation initiation factor 6 facilitates TPC-1 cell proliferation and invasion through the microRNA-138-5p/lipase H axis.
    Yi D, Zhang D, Zeng Z, Zhang S, Song B, He C, Li M, He J.

    10/10/2023
    Identification of LIPH as an unfavorable biomarkers correlated with immune suppression or evasion in pancreatic cancer based on RNA-seq.

    Identification of LIPH as an unfavorable biomarkers correlated with immune suppression or evasion in pancreatic cancer based on RNA-seq.
    Zhuang H, Chen X, Wang Y, Huang S, Chen B, Zhang C, Hou B., Free PMC Article

    03/5/2022
    LIPH promotes metastasis by enriching stem-like cells in triple-negative breast cancer.

    LIPH promotes metastasis by enriching stem-like cells in triple-negative breast cancer.
    Zhang Y, Zhu X, Qiao X, Gu X, Xue J, Han Y, Sun L, Cui M, Liu C., Free PMC Article

    05/8/2021
    High LIPH expression is associated with Coronary Artery Disease.

    Serum Triglyceride Lipase Concentrations are Independent Risk Factors for Coronary Artery Disease and In-Stent Restenosis.
    Yu X, Lu J, Li J, Guan W, Deng S, Deng Q, Ye H, Han W, Yu Y, Zhang R., Free PMC Article

    02/15/2020
    Study analyzed a Japanese family with autosomal recessive woolly hair and identified a novel splice site mutation c.982+2T>A; +7_+21del in the LIPH gene, which caused skipping of exon 7 in cultured cells.

    Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair.
    Asano N, Okita T, Yasuno S, Yamaguchi M, Kashiwagi K, Kanekura T, Shimomura Y.

    08/31/2019
    Two mutants of LIPH lead to secretion defects of LIPH, which are involved in the pathogenesis of Autosomal recessive woolly hair/hypotrichosis.

    Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).
    Chang XD, Gu YJ, Dai S, Chen XR, Zhang CL, Zhao HS, Song QH.

    12/22/2018
    Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in three consanguineous Pakistani families.

    Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.
    Ahmad F, Sharif S, Furqan Ubaid M, Shah K, Khan MN, Umair M, Azeem Z, Ahmad W.

    09/1/2018
    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.

    Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan.
    Takeichi T, Tanahashi K, Taki T, Kono M, Sugiura K, Akiyama M.

    08/4/2018
    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.

    Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation.
    Kinoshita-Ise M, Kubo A, Sasaki T, Umegaki-Arao N, Amagai M, Ohyama M.

    10/7/2017
    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

    The Association between LIPC rs493258 Polymorphism and the Susceptibility to Age-Related Macular Degeneration.
    Wang Y, Wang M, Zhang X, Nie J, Zhang M, Liu X, Ma L., Free PMC Article

    08/12/2017
    Our data suggest that LIPH may have prognostic value for esophageal cancer.

    Lipase member H frequently overexpressed in human esophageal adenocarcinomas.
    Ishimine H, Zhou R, Sumitomo K, Ito Y, Seki Y, Yoshida Y, Kurisaki A.

    01/28/2017
    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.

    Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.
    Mehmood S, Jan A, Muhammad D, Ahmad F, Mir H, Younus M, Ali G, Ayub M, Ansar M, Ahmad W.

    12/17/2016
    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.

    Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis.
    Ito T, Shimomura Y, Hayashi R, Tokura Y.

    12/17/2016
    The study further extends the body of evidence that sequence variants in the LIPH gene result in hypotrichosis and woolly hair phenotype.

    Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.
    Mehmood S, Shah SH, Jan A, Younus M, Ahmad F, Ayub M, Ahmad W.

    10/22/2016
    c.460_461AG>GA (p.Ser154Asp) in exon 3 and c.742C>A (p.His248Asn) in exon 6 associated with autosomal recessive woolly hair

    Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family.
    Hayashi R, Akasaka T, Ito M, Shimomura Y.

    02/20/2016
    High LIPH expression is associated with metastasis in breast cancer.

    Lipase member H is a novel secreted protein associated with a poor prognosis for breast cancer patients.
    Cui M, Jin H, Shi X, Qu G, Liu L, Ding X, Wang Y, Niu C.

    04/18/2015
    Mutation patterns of LIPH might be associated with hypotrichosis severity in autosomal recessive woolly hair/hypotrichosis.

    Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.
    Tanahashi K, Sugiura K, Kono M, Takama H, Hamajima N, Akiyama M., Free PMC Article

    10/18/2014
    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.

    Lipase member H is a novel secreted protein selectively upregulated in human lung adenocarcinomas and bronchioloalveolar carcinomas.
    Seki Y, Yoshida Y, Ishimine H, Shinozaki-Ushiku A, Ito Y, Sumitomo K, Nakajima J, Fukayama M, Michiue T, Asashima M, Kurisaki A.

    04/19/2014
    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

    Association of hepatic lipase gene polymorphisms with hypertriglyceridemia and low high-density lipoprotein-cholesterol levels among South Indian subjects without diabetes.
    Ayyappa KA, Ghosh S, Mohan V, Radha V.

    02/15/2014
    A case of Japanese siblings with autosomal recessive woolly hair associated with LIPH gene homozygous mutation of c.736T > A is presented.

    Two cases of autosomal recessive woolly hair with LIPH gene mutations.
    Harada K, Inozume T, Kawamura T, Shibagaki N, Kinoshita T, Deguchi N, Shimada S.

    01/11/2014
    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.

    A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.
    Tariq M, Azhar A, Baig SM, Dahl N, Klar J., Free PMC Article

    03/16/2013
    The beta9 loop domain of PA-PLA1alpha has a crucial role in autosomal recessive woolly hair/hypotrichosis [case report]

    The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis.
    Shinkuma S, Inoue A, Aoki J, Nishie W, Natsuga K, Ujiie H, Nomura T, Abe R, Akiyama M, Shimizu H.

    10/6/2012
    the c.659_660delTA mutation in the LIPH gene caused autosomal recessive wooly hair/hypotrichosis phenotype in the studied family.

    Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.
    Shah SH, Abid A, Shahid S, Khaliq S.

    02/25/2012
    736T>A transition is highly specific and common in autosomal recessive woolly hair/hypotrichosis of Japanese origin.

    Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair.
    Yoshimasu T, Kanazawa N, Kambe N, Nakamura M, Furukawa F.

    01/21/2012
    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.

    LPA-producing enzyme PA-PLA₁α regulates hair follicle development by modulating EGFR signalling.
    Inoue A, Arima N, Ishiguro J, Prestwich GD, Arai H, Aoki J., Free PMC Article

    12/17/2011
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