AlphaFold predicted structure
SLC30A10 · Q6XR72

Mean pLDDT
67.5/ 100
Low
485 residues
Confidence breakdown
- Very high(≥ 90)26%
- Confident(70–90)32%
- Low(50–70)9%
- Very low(< 50)33%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
solute carrier family 30 member 10
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalEarly onset dystonia
BIALLELIC, autosomal or pseudoautosomalHereditary Erythrocytosis
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalParkinson Disease and Complex Parkinsonism
BIALLELIC, autosomal or pseudoautosomalStructural basal ganglia disorders
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal+2 more panels — install the extension to see the full list inline on any page.
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
nephrolithiasis
bladder calculus
extrahepatic bile duct carcinoma
ureterolithiasis
urolithiasis
diverticular disease
hereditary disease
androgenetic alopecia
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Calcium/manganese antiporter SLC30A10
Calcium:manganese antiporter of the plasma membrane mediating the efflux of intracellular manganese coupled to an active extracellular calcium exchange (PubMed:30755481). Required for intracellular manganese homeostasis, an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. Manganese can also be cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis (PubMed:22341972, PubMed:25319704, PubMed:26728129, PubMed:27226609, PubMed:27307044). Could also have an intracellular zinc ion transporter activity, directly regulating intracellular zinc ion homeostasis and more indirectly various signaling pathway and biological processes (PubMed:22427991, PubMed:26728129)
SLC30A10 · Q6XR72

Mean pLDDT
67.5/ 100
Low
485 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0