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- ENPP1 Gene - GeneCards | ENPP1 Protein | ENPP1 Antibody
This gene is a member of the ecto-nucleotide pyrophosphatase phosphodiesterase (ENPP) family The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits
- SCP2 Gene - GeneCards | SCP2 Protein | SCP2 Antibody
This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters
- GBA1 Gene - GeneCards | GBA1 Protein | GBA1 Antibody
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides
- DMD Gene - GeneCards | DMD Protein | DMD Antibody
The DMD gene is the largest known gene in humans It is 2 4 million base-pairs in size, comprises 79 exons and takes over 16 hours to be transcribed and cotranscriptionally spliced
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