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AGA: Gene

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:

Cytogenetic Location: 4q34.3 Molecular Location on chromosome 4:
 

Start: 178,351,924 bp from pter
End: 178,363,657 bp from pter
Size: 11,734 bases
Orientation: minus strand
Coding position:
From 178,352,052 to 178,362,716
[length: 10,665 bp]

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 - Gl94
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 - Gl233
ENSE00002227706 8015 - 8122 108     Gly 233 - Se269
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.