| 1308757 | Hgd | homogentisate 1, 2-dioxygenase | ENCODES a protein that exhibits homogentisate 1,2-dioxygenase activity (ortholog); identical protein binding (ortholog); INVOLVED IN amino acid metabolic process (ortholog); L-tyrosine catabolic process (ortholog); PARTICIPATES IN alkaptonuria pathway; disulfiram pharmacodynamics pathway; dopamine b eta-hydroxylase deficiency pathway; ASSOCIATED WITH alkaptonuria (ortholog); Alkaptonuric Ochronosis (ortholog); genetic disease (ortholog); INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 3-chloropropane-1,2-diol | 11 | 76592202 | 76643776 | Rat | 143 | symbol , PhenoGen | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1318713 | HGD | homogentisate 1,2-dioxygenase | 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] | 3 | 120628172 | 120682239 | Human | 329 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1318714 | Hgd | homogentisate 1, 2-dioxygenase | Enables homogentisate 1,2-dioxygenase activity. Acts upstream of or within amino acid metabolic process. Is expressed in several structures, including alimentary system; brain; genitourinary system; liver; and sensory organ. Used to study alkaptonuria. Human ortholog(s) of this gene implicated in al kaptonuria. Orthologous to human HGD (homogentisate 1,2-dioxygenase). [provided by Alliance of Genome Resources, Jul 2025] | 16 | 37400104 | 37452388 | Mouse | 156 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8720242 | Hgd | homogentisate 1,2-dioxygenase | ENCODES a protein that exhibits homogentisate 1,2-dioxygenase activity (ortholog); identical protein binding (ortholog); INVOLVED IN amino acid metabolic process (ortholog); L-tyrosine catabolic process (ortholog); PARTICIPATES IN alkaptonuria pathway; disulfiram pharmacodynamics pathway; dopamine b eta-hydroxylase deficiency pathway; ASSOCIATED WITH alkaptonuria (ortholog); Alkaptonuric Ochronosis (ortholog); genetic disease (ortholog) | NW_004955427 | 20141522 | 20188700 | Chinchilla | 20 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11815081 | HGD | homogentisate 1,2-dioxygenase | ENCODES a protein that exhibits dioxygenase activity (inferred); homogentisate 1,2-dioxygenase activity (inferred); identical protein binding (inferred); INVOLVED IN amino acid metabolic process (ortholog); PARTICIPATES IN alkaptonuria pathway; disulfiram pharmacodynamics pathway; dopamine beta-hydr oxylase deficiency pathway; ASSOCIATED WITH alkaptonuria (ortholog); Alkaptonuric Ochronosis (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred) | 3 | 117735772 | 117790096 | Bonobo | 34 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12152193 | HGD | homogentisate 1,2-dioxygenase | ENCODES a protein that exhibits dioxygenase activity (inferred); GTP binding (inferred); homogentisate 1,2-dioxygenase activity (inferred); INVOLVED IN amino acid metabolic process (ortholog); PARTICIPATES IN alkaptonuria pathway; disulfiram pharmacodynamics pathway; dopamine beta-hydroxylase defici ency pathway; ASSOCIATED WITH alkaptonuria (ortholog); Alkaptonuric Ochronosis (ortholog); genetic disease (ortholog) | 33 | 24066099 | 24107827 | Dog | 35 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12667309 | Hgd | homogentisate 1,2-dioxygenase | ENCODES a protein that exhibits dioxygenase activity (inferred); homogentisate 1,2-dioxygenase activity (inferred); identical protein binding (inferred); INVOLVED IN amino acid metabolic process (ortholog); PARTICIPATES IN alkaptonuria pathway; disulfiram pharmacodynamics pathway; dopamine beta-hydr oxylase deficiency pathway; ASSOCIATED WITH alkaptonuria (ortholog); Alkaptonuric Ochronosis (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred) | NW_004936536 | 7314548 | 7359426 | Squirrel | 34 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 285093904 | hgd | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 625997463 | Hgd | homogentisate 1,2-dioxygenase | ENCODES a protein that exhibits homogentisate 1,2-dioxygenase activity (ortholog); identical protein binding (ortholog); INVOLVED IN amino acid metabolic process (ortholog); L-tyrosine catabolic process (ortholog); PARTICIPATES IN alkaptonuria pathway; disulfiram pharmacodynamics pathway; dopamine b eta-hydroxylase deficiency pathway; ASSOCIATED WITH alkaptonuria (ortholog); Alkaptonuric Ochronosis (ortholog); genetic disease (ortholog) | | | | Black Rat | 20 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18907109 | Hgd | homogentisate 1,2-dioxygenase | ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN amino acid metabolic process (ortholog); PARTICIPATES IN alkaptonuria pathway; disulfiram pharmacodynamics pathway; dopamine beta-hydroxylase deficiency pathway; ASSOCIATED WITH alkaptonuria (ortholog); Alkaptonuric Oc hronosis (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred) | | | | Naked Mole-Rat | 32 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18449296 | HGD | homogentisate 1,2-dioxygenase | ENCODES a protein that exhibits dioxygenase activity (inferred); homogentisate 1,2-dioxygenase activity (inferred); identical protein binding (inferred); INVOLVED IN amino acid metabolic process (ortholog); PARTICIPATES IN alkaptonuria pathway; disulfiram pharmacodynamics pathway; dopamine beta-hydr oxylase deficiency pathway; ASSOCIATED WITH alkaptonuria (ortholog); Alkaptonuric Ochronosis (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred) | | | | Green Monkey | 34 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14290352 | HGD | homogentisate 1,2-dioxygenase | ENCODES a protein that exhibits dioxygenase activity (inferred); homogentisate 1,2-dioxygenase activity (inferred); identical protein binding (inferred); INVOLVED IN amino acid metabolic process (ortholog); PARTICIPATES IN alkaptonuria pathway; disulfiram pharmacodynamics pathway; dopamine beta-hydr oxylase deficiency pathway; ASSOCIATED WITH alkaptonuria (ortholog); Alkaptonuric Ochronosis (ortholog); genetic disease (ortholog) | | | | Pig | 33 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 286397049 | hgd.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 12411426 | RABL3 | RAB, member of RAS oncogene family like 3 | ENCODES a protein that exhibits G protein activity (ortholog); protein homodimerization activity (ortholog); INVOLVED IN B cell differentiation (ortholog); natural killer cell differentiation (ortholog); positive regulation of cilium assembly (ortholog); ASSOCIATED WITH pancreatic cancer (ortholog) | 33 | 24107754 | 24151378 | Dog | 28 | ensembl_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 735823 | GDNF | glial cell derived neurotrophic factor | This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016] | 5 | 37812677 | 37840041 | Human | 504 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 733213 | GLUD1 | glutamate dehydrogenase 1 | This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016] | 10 | 87050202 | 87094843 | Human | 344 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |