AGTPBP1

Chr 9

ATP/GTP binding carboxypeptidase 1

Also known as: CCP1, CONDCA, NNA1

NCBI Gene: 23287 ENSG00000135049 UniProt: Q9UPW5

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.

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodegeneration, childhood-onset, with cerebellar atrophy

Clinical highlights

Gene-disease validity (ClinGen)

neurodegeneration, childhood-onset, with cerebellar atrophy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.35

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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