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Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000187 Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_000187.3, 296010950
Length 2012 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.
Product homogentisate 1,2-dioxygenase
Comment

Summary: This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010].

RefSeq NP_000178.2
CDS 461..1798
Misc Feature(1)446..448
Misc Feature(2)467..1762
Misc Feature(3)467..1762
Misc Feature(4)752..754
Exon (1)1..475
Gene:HGD
Gene Synonym:AKU; HGO
Exon (2)476..547
Gene:HGD
Gene Synonym:AKU; HGO
Exon (3)548..636
Gene:HGD
Gene Synonym:AKU; HGO
Exon (4)637..742
Gene:HGD
Gene Synonym:AKU; HGO
Exon (5)743..802
Gene:HGD
Gene Synonym:AKU; HGO
Exon (6)803..894
Gene:HGD
Gene Synonym:AKU; HGO
Exon (7)895..929
Gene:HGD
Gene Synonym:AKU; HGO
Exon (8)930..1009
Gene:HGD
Gene Synonym:AKU; HGO
Exon (9)1010..1109
Gene:HGD
Gene Synonym:AKU; HGO
Exon (10)1110..1234
Gene:HGD
Gene Synonym:AKU; HGO
Exon (11)1235..1339
Gene:HGD
Gene Synonym:AKU; HGO
Exon (12)1340..1466
Gene:HGD
Gene Synonym:AKU; HGO
Exon (13)1467..1648
Gene:HGD
Gene Synonym:AKU; HGO
Exon (14)1649..2010
Gene:HGD
Gene Synonym:AKU; HGO
Translation MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSW LYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLC GAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEIC VIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVP GGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTV LTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPG GGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLD ENYHKCWEPLKSHFTPNSRNPAEPN
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Position Chain Variation Link
complement(9)-dbSNP:
complement(9)-c, adbSNP:142298361
complement(11)-c, adbSNP:2733824
complement(78)-g, cdbSNP:148732655
complement(122)-t, cdbSNP:2733829
complement(254)-t, cdbSNP:147272996
complement(260)-t, cdbSNP:55661952
complement(282)-, gdbSNP:34858737
complement(341)-t, cdbSNP:191643714
complement(468)-t, gdbSNP:200412910
complement(570)-dbSNP:
complement(570)-t, adbSNP:138356501
complement(589)-t, cdbSNP:142789485
complement(602)-c, adbSNP:138846036
complement(618)-t, cdbSNP:200808744
complement(681)-dbSNP:
complement(681)-t, adbSNP:141965690
complement(691)-g, adbSNP:147017317
complement(700)-t, adbSNP:2255543
complement(720)-c, adbSNP:35702995
complement(762)-dbSNP:
complement(762)-t, adbSNP:143267384
complement(800)-t, gdbSNP:201753011
complement(820)-dbSNP:
complement(820)-g, adbSNP:149165166
complement(832)-g, adbSNP:140977117
complement(934)-dbSNP:
complement(934)-t, gdbSNP:2293734
complement(941)-g, adbSNP:28941783
complement(947)-g, adbSNP:140543217
complement(961)-g, adbSNP:146878140
complement(1053)-dbSNP:
complement(1053)-t, cdbSNP:199536408
complement(1126)-dbSNP:
complement(1126)-g, cdbSNP:143942333
complement(1144)-t, cdbSNP:139840318
complement(1148)-t, cdbSNP:28942100
complement(1171)-t, gdbSNP:147204182
complement(1268)-dbSNP:
complement(1268)-g, adbSNP:120074174
complement(1295)-t, gdbSNP:200382812
complement(1338)-t, gdbSNP:148641817
complement(1359)-dbSNP:
complement(1359)-t, gdbSNP:120074170
complement(1375)-g, adbSNP:144158342
complement(1379)-g, adbSNP:143556739
complement(1383)-g, cdbSNP:201529624
complement(1406)-c, adbSNP:199927284
complement(1429..1430)-, cdbSNP:34214309
complement(1436)-t, cdbSNP:143396290
complement(1450)-t, gdbSNP:120074171
complement(1468..1469)-dbSNP:
complement(1468..1469)-, cdbSNP:35952153
complement(1477)-c, adbSNP:139501220
complement(1562)-g, adbSNP:120074173
complement(1566)-t, gdbSNP:149326001
complement(1572)-g, adbSNP:120074172
complement(1578)-g, adbSNP:138558042
complement(1588)-g, cdbSNP:150145204
complement(1595)-g, cdbSNP:141753513
complement(1639)-g, adbSNP:146482816
complement(1651)-dbSNP:
complement(1651)-t, gdbSNP:137923025
complement(1666)-t, cdbSNP:140500816
complement(1681)-t, cdbSNP:146206905
complement(1795)-g, adbSNP:187614203
complement(1796)-g, adbSNP:143370662
Gene SymbolHGD
Gene SynonymAKU; HGO
Chromosome3
Locus Map3q13.33
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000187 Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA. On-demand $699.00 18
Title Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria .
Author Laschi,M., Tinti,L., Braconi,D., Millucci,L., Ghezzi,L., Amato,L., Selvi,E., Spreafico,A., Bernardini,G. and Santucci,A.
Journal J. Cell. Physiol. 227 (9), 3254-3257 (2012)
Title Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria .
Author Al-sbou,M.
Journal Rheumatol. Int. 32 (6), 1741-1746 (2012)
Title An update on molecular genetics of Alkaptonuria (AKU) .
Author Zatkova,A.
Journal J. Inherit. Metab. Dis. 34 (6), 1127-1136 (2011)
Title Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years .
Author Toth,K., Kiss-Laaszlo,Z., Lenart,E., Juhasz,K., Takacs,K., Bender,T. and Szabo,J.
Journal Joint Bone Spine 77 (4), 355-357 (2010)
Title The human homogentisate 1,2-dioxygenase (HGO) gene .
Author Granadino,B., Beltran-Valero de Bernabe,D., Fernandez-Canon,J.M., Penalva,M.A. and Rodriguez de Cordoba,S.
Journal Genomics 43 (2), 115-122 (1997)
Title Molecular defects in alkaptonuria .
Author Gehrig,A., Schmidt,S.R., Muller,C.R., Srsen,S., Srsnova,K. and Kress,W.
Journal Cytogenet. Cell Genet. 76 (1-2), 14-16 (1997)
Title The molecular basis of alkaptonuria .
Author Fernandez-Canon,J.M., Granadino,B., Beltran-Valero de Bernabe,D., Renedo,M., Fernandez-Ruiz,E., Penalva,M.A. and Rodriguez de Cordoba,S.
Journal Nat. Genet. 14 (1), 19-24 (1996)
Title Purification of the homogentisic acid oxidase from mammalian liver .
Author Hudecova,S., Strakova,Z. and Krizanova,O.
Journal Int. J. Biochem. Cell Biol. 27 (12), 1357-1363 (1995)
Title The human gene for alkaptonuria (AKU) maps to chromosome 3q .
Author Janocha,S., Wolz,W., Srsen,S., Srsnova,K., Montagutelli,X., Guenet,J.L., Grimm,T., Kress,W. and Muller,C.R.
Journal Genomics 19 (1), 5-8 (1994)
Title Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2 .
Author Pollak,M.R., Chou,Y.H., Cerda,J.J., Steinmann,B., La Du,B.N., Seidman,J.G. and Seidman,C.E.
Journal Nat. Genet. 5 (2), 201-204 (1993)


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