KEGG   Homo sapiens (human): 84842
Entry
84842             CDS       T01001                                 
Symbol
HPDL, 4-HPPD-L, GLOXD1, NEDSWMA, SPG83
Name
(RefSeq) 4-hydroxyphenylpyruvate dioxygenase-like protein
  KO
K24788  4-hydroxymandelate synthase [EC:1.13.11.46]
Organism
hsa  Homo sapiens (human)
Disease
H00266  Hereditary spastic paraplegia
H01097  Spastic quadriplegic cerebral palsy
H02470  Neurodevelopmental disorder with structural brain abnormalities
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09191 Unclassified: metabolism
   99980 Enzymes with EC numbers
    84842 (HPDL)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.13  Acting on single donors with incorporation of molecular oxygen (oxygenases)
   1.13.11  With incorporation of two atoms of oxygen
    1.13.11.46  4-hydroxymandelate synthase
     84842 (HPDL)
SSDB
Motif
Pfam: Glyoxalase Glyoxalase_4 DUF8792
Other DBs
NCBI-GeneID: 84842
NCBI-ProteinID: NP_116145
OMIM: 618994
HGNC: 28242
Ensembl: ENSP00000335060.3
UniProt: Q96IR7
LinkDB
Position
1:45326895..45328710
AA seq 371 aa
MAAPALRLCHIAFHVPAGQPLARNLQRLFGFQPLASREVDGWRQLALRSGDAVFLVNEGA
GSGEPLYGLDPRHAVPSATNLCFDVADAGAATRELAALGCSVPVPPVRVRDAQGAATYAV
VSSPAGILSLTLLERAGYRGPFLPGFRPVSSAPGPGWVSRVDHLTLACTPGSSPTLLRWF
HDCLGFCHLPLSPGEDPELGLEMTAGFGLGGLRLTALQAQPGSIVPTLVLAESLPGATTR
QDQVEQFLARHKGPGLQHVGLYTPNIVEATEGVATAGGQFLAPPGAYYQQPGKERQIRAA
GHEPHLLARQGILLDGDKGKFLLQVFTKSLFTEDTFFLELIQRQGATGFGQGNIRALWQS
VQEQSARSQEA
NT seq 1116 nt   +upstreamnt  +downstreamnt
atggccgcgcccgcccttcgtttgtgccacatcgccttccacgtgcccgccgggcagccc
ctagcccggaacctgcagcgcctcttcggcttccagcccctggcttcgcgggaggtggac
ggctggcggcagctagccctgcgcagcggcgacgcggtctttttggtgaacgagggcgca
gggtctggagagccgctgtacggcctggatccgcgtcacgccgtgcccagcgccacaaac
ctgtgcttcgacgtggcggacgccggcgctgcaacccgggagctggcagcgctgggctgc
agcgtgcctgtccctcccgttcgcgtgcgggacgcgcagggtgccgccacttacgccgtg
gtcagctcgcctgccggcatcctcagcctgaccttgctggagcgcgctggctaccgcgga
cccttcctacccggcttcaggcccgtgtcctctgcgcctggccccgggtgggtcagccgc
gtggaccacctgaccttggcctgcacccccggcagctcccccacacttttgcgctggttc
cacgactgcctgggcttttgccacttgccgctgagcccaggtgaggatcccgagctgggc
ctcgaaatgacagcagggtttgggcttgggggactgaggcttacagccctgcaggcccag
ccgggcagcattgtccccactcttgttctggctgagtcccttccgggggcgacgacacga
caggaccaggtggagcagttcctggcccggcacaaggggccaggcctgcagcacgtgggg
ctgtatacgcctaacattgtggaggccactgagggggtggcaactgctggaggccagttc
ctggctccccctggggcatactaccagcagccaggaaaggagaggcagatccgagctgca
gggcacgagcctcatctgcttgctcgacaggggatcctgctagatggtgataaaggcaag
tttctgcttcaggtcttcaccaagtccctttttactgaggacactttcttcctggagctg
attcagaggcagggggccactggctttggtcagggcaacatcagagctctgtggcagtcc
gtacaggagcaatctgccaggagccaggaagcctaa

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