In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in wolman disease to chromosome 10q23. 2-q23. 3

Journal Article · Fri Jan 01 04:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1052· OSTI ID:6717070

Anderson, R A; Rao, N; Byrum, R S; Rothschild, C B; Bowden, D W; Hayworth, R; Pettenati, M ^[1]

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1. Wake Forest Univ. Medical Center, Winston-Salem, NC (United States)

Human acid lipase/cholesteryl esterase (EC 3.1.1.13) is a 46-kDa glycoprotein required for the lysosomal hydrolysis of cholesteryl esters and triglycerides that cells acquire through the receptor-mediated endocytosis of low-density lipoproteins. This activity is essential in the provision of free cholesterol for cell metabolism as well as for the feedback signal that modulates endogenous cellular cholesterol production. The extremely low level of lysosomal acid lipase in patients afflicted with the hereditary, allelic lysosomal storage disorders Woman disease (WD) and cholesteryl ester storage disease (CESD) (MIM Number 278000 (6)) is associated with the massive intralysosomal lipid storage and derangements in the regulation of cellular cholesterol production (10). Both WD and CESD cells lack a specific acid lipase isoenzyme and it is thought that the different mutations associated with WD and CESD are in the structural gene for this isoenzyme, LIPA. Analysis of the activity of the acid lipase isoenzyme in cell extracts from human-Chinese hamster somatic cell hybrids (4, 11) demonstrated the concordant segregation of the gene locus for lysosomal acid lipase with the glutamate oxaloacetate transaminase-1 (GOT1) enzyme marker for human chromosome 10 which was subsequently localized to 10q24.1 q25.1 (8). 11 refs., 1 figs.

• OSTI ID: 6717070
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 15:1; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHEMICAL REACTIONS
CHOLESTEROL
CHROMOSOMES
DECOMPOSITION
ENZYMES
ESTERS
FEEDBACK
GENETIC MAPPING
HUMAN CHROMOSOMES
HYDROLYSIS
HYDROXY COMPOUNDS
LIPIDS
LIPOPROTEINS
LYSIS
LYSOSOMES
MAPPING
METABOLISM
MUTATIONS
ORGANIC COMPOUNDS
PATIENTS
PRODUCTION
PROTEINS
SEGREGATION
SOLVOLYSIS
STEROIDS
STEROLS
STORAGE
TRIGLYCERIDES