Property Summary

NCBI Gene PubMed Count 39
Grant Count 83
R01 Count 26
Funding $19,358,941.16
PubMed Score 381.06
PubTator Score 207.72

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q93099 A8K417 B2R8Z0
Symbols AKU
HGO

Gene

HGD

PANTHER Protein Class (2)

PDB

1EY2   1EYB  

 OMIM Term (1)

Gene RIF (12)

PMID Text
25804398 Twelve novel HGD gene variants have been identified in 99 alkaptonuria patients affecting the bones.
24575791 A novel alkaptonuria mutation, c.87 + 1G > A, shows a significant founder effect and high prevalence in a nomadic Indian population.
23353776 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
22105303 The observed increase of HGD expression in Alkaptonuria cells is probably due to a compensatory mechanism to overcome the almost null catalytic activity of the deficient enzyme
21720873 An update on molecular genetics of Alkaptonuria (AKU).(review)
21437689 Report mutations of the HGD gene in Jordanian alkaptonuria patients.
20462779 Familiar ochronotic arthropathy is caused by a gene mutation of the homogentisic acid 1,2-dioxygenase (HGD) gene traced three hundred years in a Hungarian family.
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19862842 A comprehensive mutation analysis of 93 patients enrolled in this study, as well as an extensive update of all previously published HGD mutations associated with alkaptonuria, is reported.
18945288 A single nucleotide deletion located in exon 3 resulted in a frameshift mutation in HGD gene in family with alkaptonuria.
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AA Sequence

MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSH      1 - 70
KPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNT     71 - 140
SMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFEL    141 - 210
PDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLK    211 - 280
NFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHY    281 - 350
EAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLD    351 - 420
ENYHKCWEPLKSHFTPNSRNPAEPN                                                 421 - 445
//

Text Mined References (44)

PMID Year Title
25804398 2016 Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
25681086 2015 Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.
25416956 2014 A proteome-scale map of the human interactome network.
24575791 2014 Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23430897 2012 Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23353776 2013 First report of HGD mutations in a Chinese with alkaptonuria.
22105303 2012 Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria.
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