Alternative Name(s):

Paraplegin-like protein

Species: (Organism)

Homo sapiens (Human)

Gene Names:

AFG3L2

Tag info:

N-terminal GST-tagged

Target Protein AA Sequence:

ERVIGGLEKKTQVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKKADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEF

Expression Region:

550-759aa

Subcellular Location:

Mitochondrion, Mitochondrion inner membrane, Multi-pass membrane protein

Tissue Specificity:

Ubiquitous. Highly expressed in the cerebellar Purkinje cells.

Protein Length:

Partial

Pathway:

Mol. Weight:

50.8 kDa

Purity:

Greater than 90% as determined by SDS-PAGE.

Form:

Liquid or Lyophilized powder

Buffer:

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.

Research Areas:

Metabolism

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

Involvement in disease:

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

Relevance:

ATP-dependent protease which is essential for axonal development.

Reconstitution:

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Protein Families:

AAA ATPase family; Peptidase M41 family

Reference:

Identification and characterization of AFG3L2, a novel paraplegin-related gene.Banfi S., Bassi M.T., Andolfi G., Marchitiello A., Zanotta S., Ballabio A., Casari G., Franco B.Genomics 59:51-58(1999)