164 results

... region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesterol ester storage disease. ... splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester ...

... Disease: Genes and Databases View in own window Gene Chromosome Locus Protein Locus-Specific Databases HGMD ClinVar GBA1 1q22 Lysosomal acid glucosylceramidase CCHMC - Human Genetics Mutation Database (GBA) GBA1 ...

... does not conform to current naming conventions Normal gene product. GAA is a lysosomal enzyme that catalyzes α-1,4- and α-1,6-glucosidic linkages at acid pH. There are seven glycosylation sites. The immature ...

... Quick Reference for an explanation of nomenclature. Normal gene product. The probable lysosomal cobalamin transporter LMBR1 domain-containing one protein (LMBD1) is 540 amino acids and has a predicted molecular weight of 61. ...

... MEMBER 5; SLC17A5 604369 SALLA DISEASE; SD The gene product of SLC17A5 , sialin, is an integral lysosomal membrane transporter that exports free sialic acid from lysosomes [ Mancini et al 1991 ]. Deficient or ...

... naming conventions 3. Anikster et al [2000] Normal gene product. Cystinosin, the protein product of CTNS , is a 367-amino acid peptide with seven transmembrane and two lysosomal targeting motifs, a 128-amino acid N-terminal ...

... than do affected males. ABCD1 is the only gene known to be associated with X-ALD. Other metabolic causes; for example, Wolman disease (see Lysosomal Acid Lipase Deficiency ), mitochondrial disease (see Mitochondrial Disorders Overview ...

... et al 2005 ]. Deficiency of 2-OH fatty acids may also lead to an abnormal increase ... FAHN. Gene structure. The reference sequence NM_024306.4 has ...