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Adenosylhomocysteinase like 2 (AHCYL2)

Target
AHCYL2
Molecular classification
Enzyme (S-adenosylhomocysteine hydrolase-like protein), Other (regulator of sodium/bicarbonate cotransporter activity)
01

Overview

Adenosylhomocysteinase like 2 (AHCYL2) encodes a protein structurally related to S-adenosylhomocysteine hydrolases and may function in the reversible conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine within the one-carbon metabolism pathway[2][3][8]. AHCYL2 is most notable for its homology to AHCYL1; however, unlike AHCYL1, it does not regulate ITPR1 sensitivity to inositol 1,4,5-trisphosphate but may modulate the activity of the sodium/bicarbonate cotransporter SLC4A4[3][5]. It is a homotetrameric protein, expressed in diverse human tissues, with several transcript variants encoding different isoforms[3][8][9]. Clinical associations have been observed with certain brain malformation syndromes and glycine N-methyltransferase deficiency, but it is not currently a recognized drug target and no specific drug interactions are documented[3].

Other names
Adenosylhomocysteinase 3IRBIT2KIAA0828long-IRBITS-adenosylhomocysteine hydrolase-like 2ADOHCYASE3mKIAA08284631427C17RikRGDI564895S-adenosyl-L-homocysteine hydrolase 3IP(3)Rs binding protein released with IP(3) 2
02

Biological functions

Putative conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosineRegulation of electrogenic sodium/bicarbonate cotransporter activity (SLC4A4)Putative involvement in one-carbon metabolism
03

Disease associations

Other (associated with cortical dysplasia, complex, with other brain malformations 7)Other (glycine N-methyltransferase deficiency)

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