Table 1.
P-type ATPases involved in neuronal disorders.
| P-type | Gene | Substrate | Disorder | Ref. |
|---|---|---|---|---|
| P1B | ATP7A | Cu+ | Menkes disease (MD) | [OMIM:309400] |
| Occipital horn syndrome (OHS) | [OMIM:304150] | |||
| Spinal muscular atrophy, distal, X-linked 3 (SMAX3) | [OMIM:300489] | |||
| P1B | ATP7B | Cu+ | Wilson disease (WD) | [OMIM:277900] |
| Possible genetic risk factor for Alzheimer's disease (AD) and parkinsonism | Bull et al., 1993; Telianidis et al., 2013 | |||
| P2B | ATP2B3 | Ca2+ | Early onset X-linked spinocerebellar ataxia 1 | [OMIM:300014] |
| P2C | ATP1A2 | Na+/K+ | Familial hemiplegic migraine type 2 (FHM2) | [OMIM:602481] |
| Alternating hemiplegia of childhood 1 (AHC1) | [OMIM:104290] | |||
| P2C | ATP1A3 | Na+/K+ | Rapid-onset dystonia parkinsonism (DYT12, RDP) | [OMIM:128235] |
| Alternating hemiplegia of childhood 2 (AHC2) | [OMIM:614820] | |||
| P4 | ATP8A2 | PS | Cerebellar ataxia, mental retardation and disequilibrium syndrome 4 (CAMRQ4) | [OMIM:615268] |
| P4 | ATP10A | ? | Angelman syndrome (AS) | Blanco-Arias et al., 2009 |
| P5B | ATP13A2 | ? | Kufor-Rakeb syndrome (KRS) | [OMIM:606693] |
| Neuronal ceroid lipofuscinosis (NCL) | ||||
| P5B | ATP13A4 | ? | Specific language impairment (SLI) | Gourdon et al., 2011; Lohmann and Klein, 2013 |
| autism spectrum disorders (ASD) | Ugolino et al., 2011 |
OMIM entries are shown for the most well established genetic disorders. References are shown for disorders that have been linked genetically to mutations in the indicated gene(s).