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| Hair disorders v0.36 | C3orf52 |
Chirag Patel changed review comment from: 2 families with 4 individuals with localized hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Sources: Literature; to: 2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6) Sources: Literature |
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| Hair disorders v0.0 | LIPH |
Bryony Thompson gene: LIPH was added gene: LIPH was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LIPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPH were set to 31332722 Phenotypes for gene: LIPH were set to Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379; Hypotrichosis 7, 604379 |
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