Alternative name(s) :
Gene_locus : human-LIPI
Mutation : 1 mutation C55Y_human-LIPI
Comment
Wen et al. (2003) identified 2 Caucasian hypertriglyceridemic individuals who were heterozygous for a G-to-A transition at nucleotide 164 of the LIPI gene, resulting in cys55-to-tyr (C55Y\; 609252.0001) substitution. They identified 2 other coding SNPs that were associated with variation in plasma HDL cholesterol in independent normolipidemic populations.However Hamosh (2019) noted that the C55Y (C76Y) variant was present in 1,382 of 282,752 alleles and in 8 homozygotes in the gnomAD database (June 25, 2019)| Title : Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans - Wen_2003_Hum.Mol.Genet_12_1131 |
| Author(s) : Wen XY , Hegele RA , Wang J , Wang DY , Cheung J , Wilson M , Yahyapour M , Bai Y , Zhuang L , Skaug J , Young TK , Connelly PW , Koop BF , Tsui LC , Stewart AK |
| Ref : Hum Mol Genet , 12 :1131 , 2003 |
| Abstract : Wen_2003_Hum.Mol.Genet_12_1131 |
| ESTHER : Wen_2003_Hum.Mol.Genet_12_1131 |
| PubMedSearch : Wen_2003_Hum.Mol.Genet_12_1131 |
| PubMedID: 12719377 |
| Gene_locus related to this paper: human-LIPI |