Disease-gene associations mined from literature

Literature associating ASRGL1 and MASA syndrome

ASRGL1 [ENSP00000400057]

Isoaspartyl peptidase/L-asparaginase; Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L- Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activity toward glutamine.

Synonyms:  ASRGL1,  ASRGL1p,  hASRGL1,  A0A024R573,  E9PJK6 ...

Linkouts:  STRING  Pharos  UniProt