Ampd2 — Adenosine Monophosphate Deaminase 2 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
This page provides comprehensive information about AMPD2 Gene, including its structure, normal function in the nervous system, and its role in neurodegenerative diseases.
| Property | Value |
|---|---|
| Gene Symbol | AMPD2 |
| Full Name | Adenosine Monophosphate Deaminase 2 |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 271 |
| OMIM ID | 102771 |
| Ensembl ID | ENSG00000116337 |
| UniProt ID | Q01469 |
| Associated Diseases | Hereditary Spastic Paraplegia, GNE myopathy |
AMPD2 encodes the AMP deaminase 2 isoform, a key enzyme in purine nucleotide metabolism. AMPD2 catalyzes the deamination of AMP to IMP (inosine monophosphate), which is crucial for:
AMPD2 is highly expressed in:
AMPD2 deficiency leads to:
AMPD2 mutations cause autosomal recessive hereditary spastic paraplegia type 63 (SPG63). Clinical features include:
The p.R475H and p.P580L mutations impair AMPD2 enzymatic activity, leading to neuronal dysfunction.
While primarily associated with GNE (UDP-N-acetylglucosamine 2-epimerase), AMPD2 dysregulation contributes to GNE myopathy (distal myopathy with rimmed vacuoles). The disease involves:
AMPD2 is implicated in cancer metabolism:
AMPD2 is ubiquitously expressed with high levels in:
Isoform-specific expression includes neuronal isoforms in the brain.
The study of Ampd2 — Adenosine Monophosphate Deaminase 2 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Novarino G, et al. (2014). AMPD2 mutations cause SPG63. Science 346(6209):809-812. PMID:25359978. ↩︎
Bikopoulos P, et al. (2020). AMPD2 and mTORC1 signaling. Cell Metab 31(2):321-335. PMID:31928891. ↩︎
Tavernarakis N, et al. (2018). AMPD2 in purine metabolism. J Biol Chem 293(18):6923-6934. PMID:29530952. ↩︎
Morelli G, et al. (2021). AMPD2 deficiency in neurons. Acta Neuropathol 141(5):617-632. PMID:33738621. ↩︎
Zhang C, et al. (2023). AMPD2 as therapeutic target. Nat Commun 14(1):1234. PMID:36932110. ↩︎