DISEASES

Disease-gene associations mined from literature

Literature associating AGBL1 and corneal dystrophy

AGBL1 [ENSP00000413001]

Cytosolic carboxypeptidase 4; Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5.

Synonyms:  AGBL1,  AGBL1p,  hAGBL1,  A0A1B0GVQ2,  A0A494BZI8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM