Recombinant Human Protein SCO2 homolog, mitochondrial (SCO2) | CSB-EP020853HU

Recombinant Human Protein SCO2 homolog, mitochondrial (SCO2) | CSB-EP020853HU | Cusabio

Alternative Name(s): Cytochrome oxidase deficient homolog 2; MGC125823; MGC125825; OTTHUMP00000196774; OTTHUMP00000196775; Protein SCO2 homolog; mitochondrial; SCO (cytochrome oxidase deficient; yeast) homolog 2; SCO 1L; SCO 2; SCO cytochrome oxidase deficient homolog 2 (yeast); SCO cytochrome oxidase deficient homolog 2; SCO1L; SCO2; SCO2_HUMAN; Synthesis of cytochrome c oxidase 2

Gene Names: SCO2

Research Areas: Metabolism

Organism: Homo sapiens (Human)

AA Sequence: PAETGGQGQPQGPGLRTRLLITGLFGAGLGGAWLALRAEKERLQQQKRTEALRQAAVGQGDFHLLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQLEAEPGLPPVQPVFITVDPERDDVEAMARYVQDFHPRLLGLTGSTKQVAQASHSYRVYYNAGPKDEDQDYIVDHSIAIYLLNPDGLFTDYYGRSRSAEQISDSVRRHMAAFRSVLS

Source: E.coli

Tag Info: N-terminal 6xHis-SUMO-tagged

Expression Region: 43-266aa

Sequence Info: Full Length of Mature Protein

MW: 41.1 kDa

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

Relevance: Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2).

Reference: Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.Tran-Viet K.N., Powell C., Barathi V.A., Klemm T., Maurer-Stroh S., Limviphuvadh V., Soler V., Ho C., Yanovitch T., Schneider G., Li Y.J., Nading E., Metlapally R., Saw S.M., Goh L., Rozen S., Young T.L.Am. J. Hum. Genet. 92:820-826(2013)

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: Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2).

Involvement in disease: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1); Myopia 6 (MYP6); Leigh syndrome (LS)

Subcellular Location: Mitochondrion

Protein Families: SCO1/2 family

Tissue Specificity: Ubiquitous.

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: O43819

HGNC Database Link: HGNC

UniGene Database Link: UniGene

KEGG Database Link: KEGG

STRING Database Link: STRING

OMIM Database Link: OMIM