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Protein-coding gene in the species Homo sapiens
humans is encoded by the HADHB gene. HADHB is a subunit of the mitochondrial trifunctional protein and has thiolase activity. The HADHB gene is located on chromosome
HADHB
Medical condition
trifunctional protein deficiency is based on mutations in the HADHA and HADHB genes which cause this disorder. These genes each provide instructions for
Mitochondrial trifunctional protein deficiency
Mitochondrial_trifunctional_protein_deficiency
Aspartic protease protein and enzyme
ATP6AP2. The level of renin mRNA appears to be modulated by the binding of HADHB, HuR and CP1 to a regulatory region in the 3' UTR. The gene for renin, REN
Renin
Human chromosome
thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit HADHB: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme
Chromosome_2
Inner mitochondrial membrane protein
is a hetero-octamer composed of four alpha and four beta subunits: HADHA HADHB The three functions are 2-enoyl coenzyme A (CoA) hydratase, long-chain 3-hydroxy
Mitochondrial trifunctional protein
Mitochondrial_trifunctional_protein
RNA family
Beveridge DJ, van der Weyden L, Mangs H, Leedman PJ, Morris BJ (2003). "HADHB, HuR, and CP1 bind to the distal 3'-untranslated region of human renin mRNA
Renin stability regulatory element (REN-SRE)
Renin_stability_regulatory_element_(REN-SRE)
Protein-coding gene in the species Homo sapiens
present. The alpha subunit catalyzes this reaction, and is attached to HADHB, which catalyzes the last step of the reaction. Mutations in this gene result
HADHA
Enzymes
3-Ketoacyl-CoA thiolase; β-Ketothiolase 3-KAT ACAA1 peroxisomal ACAA2 mitochondrial HADHB mitochondrial EC 2.3.1.154 Propionyl-CoA C2-trimethyltridecanoyltransferase
Thiolase
Protein-coding gene in the species Homo sapiens
FASTKD2; Fatty acid beta oxidation pathway proteins (ACADVL, ECHS1, HADHA, HADHB, ACAA2); Amino acid catabolic pathways proteins (MCCC1, MCCC2, GLUD1, HIBADH
FASTKD3
HGNC:6041; A1L0T0 6895 HADH HGNC:4799; Q16836 6896 HADHA HGNC:4801; P40939 6897 HADHB HGNC:4803; P55084 6898 HAGH HGNC:4805; Q16775 6899 HAGHL HGNC:14177; Q6PII5
List of human protein-coding genes 4
List_of_human_protein-coding_genes_4
Protein-coding gene in the species Homo sapiens
PMID 12890803. Adams DJ, Beveridge DJ, van der Weyden L, et al. (2004). "HADHB, HuR, and CP1 bind to the distal 3'-untranslated region of human renin mRNA
PCBP1
protein deficiency; 609015; HADHA Trifunctional protein deficiency; 609015; HADHB Trigonocephaly; 190440; FGFR1 Trimethylaminuria; 602079; FMO3 Triphalangeal
List_of_OMIM_disorder_codes
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