Ontology highlight
ABSTRACT:
SUBMITTER: Anderson RA
PROVIDER: S-EPMC43441 | biostudies-other | 1994 Mar
REPOSITORIES: biostudies-other
Proceedings of the National Academy of Sciences of the United States of America 19940301 7
The genomic sequences encoding the human lysosomal acid lipase/cholesteryl esterase (sterol esterase; EC 3.1.1.13) have been isolated and sequenced, and the information has been used to identify mutations in both alleles of the gene from a patient with Wolman disease, an autosomal recessive lysosomal lipid storage disorder. The genomic locus consists of 10 exons spread over 36 kb. The 5' flanking region is G+C-rich and has characteristics of a "housekeeping" gene promoter. One of the identified ...[more]