Recombinant Human AFG3-like protein 2 (AFG3L2), partial | CSB-RP040044h

Recombinant Human AFG3-like protein 2 (AFG3L2), partial | CSB-RP040044h | Cusabio

Alternative Name(s): Paraplegin-like protein

Gene Names: AFG3L2

Research Areas: Metabolism

Organism: Homo sapiens (Human)

AA Sequence: ERVIGGLEKKTQVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKKADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEF

Source: E.coli

Tag Info: N-terminal GST-tagged

Expression Region: 550-759aa

Sequence Info: Partial

MW: 50.8 kDa

Purity: Greater than 90% as determined by SDS-PAGE.

Relevance: ATP-dependent protease which is essential for axonal development.

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)

Storage: The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself. Generally, the shelf life of liquid form is 6 months at -20?/-80?. The shelf life of lyophilized form is 12 months at -20?/-80?.

Notes: Repeated freezing and thawing is not recommended. Store working aliquots at 4? for up to one week.

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)

Subcellular Location: Mitochondrion, Mitochondrion inner membrane, Multi-pass membrane protein

Protein Families: AAA ATPase family; Peptidase M41 family

Tissue Specificity: Ubiquitous. Highly expressed in the cerebellar Purkinje cells.

Paythway:

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.

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.

Uniprot ID: Q9Y4W6

HGNC Database Link: HGNC

UniGene Database Link: UniGene

KEGG Database Link: KEGG

STRING Database Link: STRING

OMIM Database Link: OMIM