AGTPBP1

Chr 9AR

ATP/GTP binding carboxypeptidase 1

Also known as: CCP1, CONDCA, NNA1

NCBI Gene: 23287 ENSG00000135049 UniProt: Q9UPW5 OMIM: 606830

AGTPBP1 encodes a metallocarboxypeptidase that removes polyglutamate side chains from tubulin and other proteins, a process called deglutamylation that regulates microtubule dynamics. Mutations cause autosomal recessive childhood-onset neurodegeneration with cerebellar atrophy. The gene is highly constrained against loss-of-function variants (LOEUF 0.351), indicating that complete loss of function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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, Jul 2002]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.351 OMIM phenotype

Clinical Summary— AGTPBP1

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Gene-Disease Validity (ClinGen)

neurodegeneration, childhood-onset, with cerebellar atrophy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.

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