AGTPBP1 Chromosome 9
ATP/GTP binding carboxypeptidase 1
Upload your DNA to see your personal genotypes for variants in AGTPBP1.
What This Gene Does
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]
Gene Info
Gene Group
"M14 carboxypeptidases|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
9q21.33
Ensembl
ENSG00000135049
Associated Conditions (8)
Neurodegeneration
childhood-onset
with cerebellar atrophy
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
Global developmental delay
Aplasia/Hypoplasia of the cerebellum
Motor polyneuropathy
AGTPBP1-related disorder
Key Variants
RS1564035967
Conflicting classifications of pathogenicity
Neurodegeneration, childhood-onset, with cerebellar atrophy
Health Risk
RS549877950
Conflicting classifications of pathogenicity
Neurodegeneration, childhood-onset, with cerebellar atrophy
Health Risk
RS1287669340
Likely pathogenic
Neurodegeneration, childhood-onset, with cerebellar atrophy
Health Risk
RS1564046794
Likely pathogenic
Neurodegeneration, childhood-onset, with cerebellar atrophy
Health Risk
RS1564069651
Likely pathogenic
Global developmental delay, Aplasia/Hypoplasia of the cerebellum, Global developmental delay
Health Risk
RS1564069807
Likely pathogenic
Global developmental delay, Motor polyneuropathy, Aplasia/Hypoplasia of the cerebellum
Health Risk
RS1829045299
Likely pathogenic
Neurodegeneration, childhood-onset, with cerebellar atrophy
Health Risk
RS2537710137
Likely pathogenic
Neurodegeneration, childhood-onset, with cerebellar atrophy
Health Risk
RS2537992540
Likely pathogenic
Neurodegeneration, childhood-onset, with cerebellar atrophy
Health Risk
RS747285262
Likely pathogenic
Neurodegeneration, childhood-onset, with cerebellar atrophy
Health Risk
RS779664281
Likely pathogenic
Neurodegeneration, childhood-onset, with cerebellar atrophy
Health Risk
RS1183456608
Pathogenic
Neurodegeneration, childhood-onset, with cerebellar atrophy
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1564035967 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS549877950 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS1287669340 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS1564046794 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS1564069651 | Health Risk | Likely pathogenic | Global developmental delay, Aplasia/Hypoplasia of the cerebellum, Global developmental delay |
| RS1564069807 | Health Risk | Likely pathogenic | Global developmental delay, Motor polyneuropathy, Aplasia/Hypoplasia of the cerebellum |
| RS1829045299 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS2537710137 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS2537992540 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS747285262 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS779664281 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS1183456608 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS1331302673 | Health Risk | Pathogenic | — |
| RS1554699491 | Health Risk | Pathogenic | AGTPBP1-related disorder, Neurodegeneration, childhood-onset |
| RS1564034077 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS1564041582 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS1564071824 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS1833598892 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS2538292726 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS760300826 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with cerebellar atrophy |
| RS780631499 | Health Risk | Pathogenic | AGTPBP1-related disorder, Neurodegeneration, childhood-onset |
| RS943824159 | Health Risk | Pathogenic | Global developmental delay, Aplasia/Hypoplasia of the cerebellum, Global developmental delay |