Aspartylglucosaminidase (AGA) gene
Gene that cause Aspartylglycosaminuria is called aspartylglucosaminidase gene, NIH Genetics Reference. It makes enzyme with the same name, aspartylglucosaminidase, or more specifically N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase.
Gene Location:
The nine exons are separated by introns whose sizes in kb are shown in italics. The gene encodes a 346-amino acid single-chain polypeptide that contains a 23-amino acid signal peptide (shaded). Self-cleavage of the nascent single-chain precursor occurs between residues D205 and T206 to form the active α/β-glycosylasparaginase. Exon and intron sequences can be found in GenBank: U21273–U21281.
| Cytogenetic Location: 4q34.3 | Molecular Location on chromosome 4: |
 |
End: 178,363,657 bp from pterCoding position: From 178,352,052 to 178,362,716 |
AGA gene is made up of nine exons:
| Identifier | Position on gene |
Length | Coding for Iso 1 ENST00000264595 |
|
|---|---|---|---|---|
| ENSE00002055757 | 1 - 255 | 255 | Met 1 - Ala 43 | |
| ENSE00002496979 | 2078 - 2231 | 154 | Ala 43 - Gly 94 | |
| ENSE00002439743 | 2816 - 2928 | 113 | Gly 94 - Ala 132 | |
| ENSE00002443471 | 3647 - 3759 | 113 | Ala 132 - Arg 169 | |
| ENSE00002496137 | 4985 - 5099 | 115 | Asn 170 - Gly 208 | |
| ENSE00002233825 | 6153 - 6228 | 76 | Gly 208 - Gly 233 | |
| ENSE00002227706 | 8015 - 8122 | 108 | Gly 233 - Ser 269 | |
| ENSE00002212427 | 9157 - 9290 | 134 | Ser 269 - Gly 314 | |
| ENSE00002255233 | 10696 - 11734 | 1039 | Gly 314 - Ile 346 | |
The nine exons are separated by introns whose sizes in kb are shown in italics. The gene encodes a 346-amino acid single-chain polypeptide that contains a 23-amino acid signal peptide (shaded). Self-cleavage of the nascent single-chain precursor occurs between residues D205 and T206 to form the active α/β-glycosylasparaginase. Exon and intron sequences can be found in GenBank: U21273–U21281.