|Synonyms:||GLBA, SAP1, FLJ00245, MGC110993,SAPOSIN A, INCLUDED|SAPOSIN B, INCLUDED|SAPOSIN C, INCLUDED|SAPOSIN D, INCLUDED|SPHINGOLIPID ACTIVATOR PROTEIN 1, INCLUDED, SAP1, INCLUDED|SPHINGOLIPID ACTIVATOR PROTEIN 2, INCLUDED, SAP2, INCLUDED|CEREBROSIDE SULFATASE ACT||Locus:||10q21-q22 in Homo sapiens|
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R-L INTERACTIONS MGI
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NCBI Summary: This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease, Tay-Sachs disease, and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants encoding different isoforms.
|Expression regulated by||LH|
|Comment||Changes in mouse granulosa cell gene expression during early luteinization. McRae RS et al. Changes in gene expression during granulosa cell luteinization have been measured using serial analysis of gene expression (SAGE). Immature normal mice were treated with pregnant mare serum gonadotropin (PMSG) or PMSG followed, 48 h later, by human chorionic gonadotropin (hCG). Granulosa cells were collected from preovulatory follicles after PMSG injection or PMSG/hCG injection and SAGE libraries generated from the isolated mRNA. The combined libraries contained 105,224 tags representing 40,248 unique transcripts. Overall, 715 transcripts showed a significant difference in abundance between the two libraries of which 216 were significantly down-regulated by hCG and 499 were significantly up-regulated. Among transcripts differentially regulated, there were clear and expected changes in genes involved in steroidogenesis as well as clusters of genes involved in modeling of the extracellular matrix, regulation of the cytoskeleton and intra and intercellular signaling. The SAGE libraries described here provide a base for functional investigation of the regulation of granulosa cell luteinization.|
|Genomic Region||show genomic region|
|Phenotypes and GWAS||show phenotypes and GWAS|
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|created:||July 27, 2006, 11:43 a.m.||by:||
|last update:||July 27, 2006, 11:43 a.m.||by:||Alex email:|
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