| Type | Description |
|---|---|
| Definition | homogentisate 1,2-dioxygenase |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:30:00 | Presentation of 14 alkaptonuria patients from Turkey. | 31927521 |
| 2020-06-13 11:51:00 | Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU. | 30737480 |
| 2016-09-24 10:59:00 | Twelve novel HGD gene variants have been identified in 99 alkaptonuria patients affecting the bones. | 25804398 |
| 2014-12-20 13:19:00 | A novel alkaptonuria mutation, c.87 + 1G > A, shows a significant founder effect and high prevalence in a nomadic Indian population. | 24575791 |
| 2013-05-04 11:37:00 | study described two novel HGD mutations in a Chinese alkaptonuria family, the splicing mutation of IVS7 1G>C, a donor splice site of exon 7, and a missense mutation of F329C in exon 12 | 23353776 |
| Type | IDs |
|---|---|
| Synonymous | AKU, HGO |
| Gene |
UniProtKB-ID:
HGD_HUMAN,
B3KW64_HUMAN
UniprotKB:
Q93099,
B3KW64
UniParc:
UPI00006C06F3,
UPI000020A025
EMBL:
AK290782,
AC133474,
AF000573,
AF045167,
AK313563,
U63008,
Z75048,
AK124291,
AC126182,
CH471052,
BC071757
Ensembl:
ENSG00000113924
KO:
hsa:3081
|
| Nucleutide sequences |
EMBL-CDS:
AAC51650.1,
AAH71757.1,
AAC02698.1,
BAF83471.1,
BAG36337.1,
EAW79524.1,
CAA99340.1,
AAB16836.1,
BAG54026.1
Ensembl_TRS:
ENST00000283871
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000283871
RefSeq:
XP_016861766.1,
NP_000178.2,
XP_005247471.1,
XP_011511048.1,
XP_005247469.1,
XP_005247470.1
|
| Others |
UniRef100:
UniRef100_B3KW64,
UniRef100_Q93099
UniRef90:
UniRef90_Q93099
UniRef50:
UniRef50_Q93099
UniGene:
Hs.368254
CCDS:
CCDS3000.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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