Homo sapiens (human): 79944
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Entry
79944 CDS
T01001
Symbol
L2HGDH, C14orf160, L2HGA
Name
(RefSeq) L-2-hydroxyglutarate dehydrogenase
KO
K00109
2-hydroxyglutarate dehydrogenase [EC:
1.1.99.2
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00650
Butanoate metabolism
hsa01100
Metabolic pathways
Disease
H01280
L-2-hydroxyglutaric aciduria
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09101 Carbohydrate metabolism
00650 Butanoate metabolism
79944 (L2HGDH)
Enzymes [BR:
hsa01000
]
1. Oxidoreductases
1.1 Acting on the CH-OH group of donors
1.1.99 With unknown physiological acceptors
1.1.99.2 L-2-hydroxyglutarate dehydrogenase
79944 (L2HGDH)
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GFIT
Motif
Pfam:
DAO
Pyr_redox_2
Thi4
NAD_binding_8
Mqo
NAD_binding_9
Lycopene_cycl
Trp_halogenase
Motif
Other DBs
NCBI-GeneID:
79944
NCBI-ProteinID:
NP_079160
OMIM:
609584
HGNC:
20499
Ensembl:
ENSG00000087299
UniProt:
Q9H9P8
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Position
14:complement(50242434..50312229)
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AA seq
463 aa
AA seq
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MVPALRYLVGACGRARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDIVIVGGGIVG
LASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALL
YEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCR
GLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPI
VIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNI
YPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKL
ASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFV
FDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL
NT seq
1392 nt
NT seq
+upstream
nt +downstream
nt
atggtgccagcgctgcgttatttggttggtgcctgcggacgggcccgcgggcttttcgcc
ggtggctcccctggggcgtgcgggttcgcgtctgggaggccaagaccgctgtgtggaggt
agccgcagcgccagcaccagctcatttgatatagtcatcgttggtggcggaattgtgggg
cttgcctctgccagagcactcatcctgcgacatccatcactttctattggtgttctggaa
aaggagaaagatttagctgttcaccagactggacataacagtggtgtcatacatagtgga
atttattataaacctgagtctctgaaagccaaattatgtgtacaaggtgcagccctcctc
tatgagtactgtcagcaaaagggaatttcctacaagcagtgtggcaagcttatagtagct
gttgaacaagaagaaattcccagacttcaggccctatatgagaaaggcctccagaatggt
gtcccgggcctgaggctgatccagcaggaggatataaaaaagaaggagccatattgtagg
ggtctaatggctattgattgtccacatactggcattgtggactatcggcaggtggctttg
tcatttgcccaggatttccaagaagcaggtggctctgtcttgaccaattttgaagtaaaa
ggtattgaaatggctaaagaaagtccttcaagaagtatagatggaatgcaatatccaatt
gttataaagaatacaaagggagaggaaattcgatgtcagtatgttgtgacatgtgcagga
ctttactcagaccgtatttcagagttgagtggctgcactcctgatcctcgaattgtacca
ttccggggagattacctgcttttgaagccagaaaaatgttatcttgtaaaaggaaatatt
tatccggtcccagatagccggtttcctttcctaggagttcacttcacaccaaggatggat
ggcagtatttggctagggcctaatgcagttcttgcctttaaacgagagggttacagaccc
tttgacttcagtgccacagatgttatggatataattatcaatagtggcttgattaaactg
gcatcccagaatttttcctatggagttactgaaatgtataaagcatgttttcttggtgca
acagtgaagtatcttcaaaaattcatccctgaaattactatcagtgatatacttaggggc
ccagctggagtaagagcccaggccctggatagagatggaaatctggtagaagattttgta
tttgatgcaggagttggggatattggaaatcgcattcttcatgtgagaaatgcaccttct
cctgctgctacttcttccattgcaatttctggaatgattgcagatgaagtacaacaaaga
tttgaattataa
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