Recombinant Human AFG3-like protein 2 (AFG3L2), Truncated

Uniprot Id

Q9Y4W6

Target Species

Human

Target Name

AFG3L2

Target Full Name

Mitochondrial inner membrane m-AAA protease component AFG3L2

Target Function

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. Required for paraplegin (SPG7) maturation. After its cleavage by mitochondrial-processing peptidase (MPP), it converts paraplegin into a proteolytically active mature form. Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial-processing peptidase (MPP). Involved in the regulation of OMA1-dependent processing of OPA1.

Target Involvement

Spinocerebellar ataxia 28 (SCA28); Spastic ataxia 5, autosomal recessive (SPAX5)

Target Subcellular Location

Mitochondrion. Mitochondrion inner membrane; Multi-pass membrane protein.

Target Protein Families

AAA ATPase family; Peptidase M41 family

Target Tissue Specificity

Ubiquitous. Highly expressed in the cerebellar Purkinje cells.

Target Research Area

Metabolism

Target Synonyms

AFG3 (ATPase family gene 3; yeast) like 2; AFG3 ATPase family gene 3 like 2 (yeast); AFG3 ATPase family gene 3 like 2; AFG3 like protein 2; AFG3-like protein 2; AFG32_HUMAN; AFG3L2; ATPase family gene 3 like 2; ATPase family gene 3 yeast; EC 3.4.24.-; FLJ25993; Paraplegin like protein; Paraplegin-like protein; SCA28; Spinocerebellar ataxia 28

Target Background

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.