Recombinant Human L-2-hydroxyglutarate dehydrogenase, mitochondrial (L2HGDH) | CSB-EP864008HU

Recombinant Human L-2-hydroxyglutarate dehydrogenase, mitochondrial (L2HGDH) | CSB-EP864008HU | Cusabio

Alternative Name(s): Duranin

Gene Names: L2HGDH

Research Areas: Cell Biology

Organism: Homo sapiens (Human)

AA Sequence: VIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL

Source: E.coli

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

Expression Region: 52-463aa

Sequence Info: Full Length of Mature Protein

MW: 61.3 kDa

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

Relevance:

Reference: A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.Rzem R., Veiga-da-Cunha M., Noel G., Goffette S., Nassogne M.-C., Tabarki B., Schoeller C., Marquardt T., Vikkula M., van Schaftingen E.Proc. Natl. Acad. Sci. U.S.A. 101:16849-16854(2004)

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:

Involvement in disease: L-2-hydroxyglutaric aciduria (L2HGA)

Subcellular Location: Mitochondrion

Protein Families: L2HGDH family

Tissue Specificity: Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow.

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: Q9H9P8

HGNC Database Link: HGNC

UniGene Database Link: UniGene

KEGG Database Link: KEGG

STRING Database Link: STRING

OMIM Database Link: OMIM