AFG3L2

• Official Symbol: AFG3L2
• Official Name: AFG3 like matrix AAA peptidase subunit 2
• Aliases and Previous Symbols: N/A
• Entrez ID: 10939
• UniProt: Q9Y4W6
• Interactions: BioGRID
• PubMed articles: Open PubMed
• OMIM: Open OMIM

• Entrez Summary: 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].
• UniProt Summary: ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (PubMed:27642048). Required for the maturation of paraplegin (SPG7) after its cleavage by mitochondrial-processing peptidase (MPP), converting it into a proteolytically active mature form (By similarity). {ECO:0000250|UniProtKB:Q8JZQ2, ECO:0000269|PubMed:27642048}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

• Essentiality Rank: 461
• Expression level (log2 read counts): 7.18

Expression Distribution

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AFG3L2 Expression in NALM6 Cells: 7.18