AGTPBP1

NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM

ATP/GTP binding protein 1

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.

Cerebellar Purkinje cell differentiation
C-terminal protein deglutamylation
Eye photoreceptor cell differentiation
Mitochondrion organization
Neuromuscular process
Olfactory bulb development
Protein deglutamylation
Protein side chain deglutamylation

Cytoplasm; Cytosol; Nucleus; Mitochondrion. Localizes in both the cytoplasm and nuclei of interphase and dividing cells.

Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA): An autosomal recessive disorder characterized by early onset of progressive neurodegeneration affecting the central and peripheral nervous systems. Clinical features include global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. Death in childhood may occur.