protein

Recombinant Human L-2-hydroxyglutarate dehydrogenase, mitochondrial

MBS1468015

0.05 mg (E-Coli)

190 USD

Recombinant Protein

Recombinant Human L-2-hydroxyglutarate dehydrogenase, mitochondrial

L-2-hydroxyglutarate dehydrogenase

Duranin

L-2-hydroxyglutarate dehydrogenase, mitochondrial; L-2-hydroxyglutarate dehydrogenase, mitochondrial; L-2-hydroxyglutarate dehydrogenase, mitochondrial; L-2-hydroxyglutarate dehydrogenase; Duranin

L2HGDH

L2HGDH; L2HGDH; L2HGA; C14orf160; C14orf160

L2HDH_HUMAN

E Coli or Yeast or Baculovirus or Mammalian Cell

52-463

463

VIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQT
GHNSGVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGI
SYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQ
QEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQ
EAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTK
GEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDY
LLLKPEKCYLVKGNIYPVPDS

Greater than 90% as determined by SDS-PAGE.

Liquid containing glycerol; lyophilization may be available upon request.

Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

Cell Biology

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) Complete sequencing and characterization of 21,243 full-length human cDNAs.Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.Nat. Genet. 36:40-45(2004) The DNA sequence and analysis of human chromosome 14.Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.Nature 421:601-607(2003) The gene mutated in L-2-hydroxyglutaric aciduria encodes L-2-hydroxyglutarate dehydrogenase.Rzem R., Van Schaftingen E., Veiga-da-Cunha M.Biochimie 88:113-116(2006) Lysine acetylation targets protein complexes and co-regulates major cellular functions.Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.Science 325:834-840(2009) Initial characterization of the human central proteome.Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.BMC Syst. Biol. 5:17-17(2011) An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.J. Proteomics 96:253-262(2014) L-2-hydroxyglutaric aciduria identification of a mutant gene C14orf160, localized on chromosome 14q22.1.Topcu M., Jobard F., Halliez S., Coskun T., Yalcinkayal C., Gerceker F.O., Wanders R.J.A., Prud'homme J.-F., Lathrop M., Ozguc M., Fischer J.Hum. Mol. Genet. 13:2803-2811(2004) Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.Vilarinho L., Cardoso M.L., Gaspar P., Barbot C., Azevedo L., Diogo L., Santos M., Carrilho I., Fineza I., Kok F., Chorao R., Alegria P., Martins E., Teixeira J., Cabral-Fernandes H., Verhoeven N.M., Salomons G.S., Santorelli F.M., Cabral P., Amorim A., Jakobs C.Hum. Mutat. 26:395-396(2005)

13376331

NP_079160.1

NM_024884.2

Q9H9P8

61.29kD

Butanoate Metabolism Pathway (83007); Butanoate Metabolism Pathway (391); Interconversion Of 2-oxoglutarate And 2-hydroxyglutarate Pathway (1270126); Metabolism Pathway (1269956); Pyruvate Metabolism And Citric Acid (TCA) Cycle Pathway (1270122); The Citric Acid (TCA) Cycle And Respiratory Electron Transport Pathway (1270121)

This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. [provided by RefSeq, Jul 2008]

L2HGDH: Defects in L2HGDH are the cause of L-2-hydroxyglutaric aciduria (L2HGA). L2HGA is a rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe mental retardation. Diagnosis is based on the presence of an excess of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid. Belongs to the L2HGDH family. 2 isoforms of the human protein are produced by alternative splicing. Protein type: EC 1.1.99.2; Mitochondrial; Oxidoreductase; Carbohydrate Metabolism - butanoate. Chromosomal Location of Human Ortholog: 14q21.3. Cellular Component: integral to membrane; integral to mitochondrial inner membrane; mitochondrial inner membrane; mitochondrion. Molecular Function: 2-hydroxyglutarate dehydrogenase activity. Biological Process: 2-oxoglutarate metabolic process; cellular metabolic process; cellular protein metabolic process. Disease: L-2-hydroxyglutaric Aciduria

0.05 mg (E-Coli)

190 USD

0.2 mg (E-Coli)

460

0.5 mg (E-Coli)

750

1 mg (E-Coli)

1180

0.05 mg (Baculovirus)

1185