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AFG3L2 - AFG3 like matrix AAA peptidase subunit 2
- Synonym(s) : SPAX5
- Previous symbols and names : AFG3 (ATPase family gene 3, yeast)-like 2, AFG3 ATPase family member 3-like 2 (S. cerevisiae), AFG3 like AAA ATPase 2, SCA28, spinocerebellar ataxia 28
- Type : gene with protein product
- Chromosomal location : 18p11.21
- OMIM: 604581
- HGNC: 315
- UniProtKB: Q9Y4W6
- Genatlas: AFG3L2
- GenCC: AFG3L2
- Ensembl: ENSG00000141385
- IUPHAR-DB: -
- Reactome: Q9Y4W6
- LOVD: AFG3L2
Diseases list
- Disease-causing germline mutation(s) in Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
ORPHA:313772 
- Disease-causing germline mutation(s) in Spinocerebellar ataxia type 28
ORPHA:101109
: AssessedAdditional information
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Specialised Social Services
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