AFG3L2

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]

Description

AFG3-like AAA ATPase 2

Protein family

Disease related genes, Enzymes, Mapped to UniProt SWISS-PROT, Mitochondrial proteins, Plasma proteins, Potential drug targets, Predicted membrane proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

18:p11.21 (12328944 - 12377314)

Ensembl ID

ENSG00000141385  (ver. 84.38)

Orthologs

Mouse Afg3l2: ENSMUSG00000024527

UniProt

Q9Y4W6

neXtProt

NX_Q9Y4W6

Human splice variants
Mouse splice variants