Property Summary

NCBI Gene PubMed Count 35
Grant Count 3
Funding $66,920
PubMed Score 31.04
PubTator Score 64.09

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q8WWY8 A2IBA7 Q8TEC7 LIPH
Symbols AH
LAH2
ARWH2
HYPT7
LPDLR
PLA1B
mPA-PLA1

Gene

PANTHER Protein Class (3)

Gene RIF (28)

PMID Text
26645693 The study further extends the body of evidence that sequence variants in the LIPH gene result in hypotrichosis and woolly hair phenotype.
25201209 c.460_461AG>GA (p.Ser154Asp) in exon 3 and c.742C>A (p.His248Asn) in exon 6 associated with autosomal recessive woolly hair
25123262 High LIPH expression is associated with metastasis in breast cancer.
24586639 Mutation patterns of LIPH might be associated with hypotrichosis severity in autosomal recessive woolly hair/hypotrichosis.
24380866 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.
23590372 A case of Japanese siblings with autosomal recessive woolly hair associated with LIPH gene homozygous mutation of c.736T > A is presented.
23550552 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
23066499 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.
22475755 The beta9 loop domain of PA-PLA1alpha has a crucial role in autosomal recessive woolly hair/hypotrichosis [case report]
22125978 the c.659_660delTA mutation in the LIPH gene caused autosomal recessive wooly hair/hypotrichosis phenotype in the studied family.
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AA Sequence

MLRFYLFISLLCLSRSDAEETCPSFTRLSFHSAVVGTGLNVRLMLYTRKNLTCAQTINSSAFGNLNVTKK      1 - 70
TTFIVHGFRPTGSPPVWMDDLVKGLLSVEDMNVVVVDWNRGATTLIYTHASSKTRKVAMVLKEFIDQMLA     71 - 140
EGASLDDIYMIGVSLGAHISGFVGEMYDGWLGRITGLDPAGPLFNGKPHQDRLDPSDAQFVDVIHSDTDA    141 - 210
LGYKEPLGNIDFYPNGGLDQPGCPKTILGGFQYFKCDHQRSVYLYLSSLRESCTITAYPCDSYQDYRNGK    211 - 280
CVSCGTSQKESCPLLGYYADNWKDHLRGKDPPMTKAFFDTAEESPFCMYHYFVDIITWNKNVRRGDITIK    281 - 350
LRDKAGNTTESKINHEPTTFQKYHQVSLLARFNQDLDKVAAISLMFSTGSLIGPRYKLRILRMKLRSLAH    351 - 420
PERPQLCRYDLVLMENVETVFQPILCPELQL                                           421 - 451
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Publication (35)

PMID Year Title
26645693 Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.
25201209 2014 Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family.
25123262 2014 Lipase member H is a novel secreted protein associated with a poor prognosis for breast cancer patients.
24586639 2014 Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.
24380866 2014 Lipase member H is a novel secreted protein selectively upregulated in human lung adenocarcinomas and bronchioloalveolar carcinomas.
23590372 2013 Two cases of autosomal recessive woolly hair with LIPH gene mutations.
23550552 2013 Association of hepatic lipase gene polymorphisms with hypertriglyceridemia and low high-density lipoprotein-cholesterol levels among South Indian subjects without diabetes.
23066499 2012 A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.
22475755 2012 The ?9 loop domain of PA-PLA1? has a crucial role in autosomal recessive woolly hair/hypotrichosis.
22125978 2011 Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.
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