| Description : |
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
87.3 kDa |
| AA Sequence : |
MLSQVYRCGFQPFNQHLLPWVKCTT VFRSHCIQPSVIRHVRSWSNIPFIT VPLSRTHGKSFAHRSELKHAKRIVV KLGSAVVTRGDECGLALGRLASIVE QVSVLQNQGREMMLVTSGAVAFGKQ RLRHEILLSQSVRQALHSGQNQLKE MAIPVLEARACAAAGQSGLMALYEA MFTQYSICAAQILVTNLDFHDEQKR RNLNGTLHELLRMNIVPIVNTNDAV VPPAEPNSDLQGVNVISVKDNDSLA ARLAVEMKTDLLIVLSDVEGLFDSP PGSDDAKLIDIFYPGDQQSVTFGIK SRVGMGGMEAKVKAALWALQGGTSV VIANGTHPKVSGHVITDIVEGKKVG TFFSEVKPAGPTVEQQGEMARSGGR MLATLEPEQRAEIIHHLADLLTDQR DEILLANKKDLEEAEGRLAAPLLKR LSLSTSKLNSLAIGLRQIAASSQDS VGRVLRRTRIAKNLELEQVTVPIGV LLVIFESRPDCLPQVAALAIASGNG LLLKGGKEAAHSNRILHLLTQEALS IHGVKEAVQLVNTREEVEDLCRLDK MIDLIIPRGSSQLVRDIQKAAKGIP VMGHSEGICHMYVDSEASVDKVTRL VRDSKCEYPAACNALETLLIHRDLL RTPLFDQIIDMLRVEQVKIHAGPKF ASYLTFSPSEVKSLRTEYGDLELCI EVVDNVQDAIDHIHKYGSSHTDVIV TEDENTAEFFLQHVDSACVFWNAST RFSDGYRFGLGAEVGISTSRIHARG PVGLEGLLTTKWLLRGKDHVVSDFS EHGSLKYLHENLPIPQRNTNTRTRP LEQKLISEEDLAANDILDYKDDDDK V |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
