Official symbol | HADHA |
Gene id | 3030 |
Organism | Homo sapiens |
Official full symbol | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
Gene type | protein-coding |
Also known as | ECHA, GBP, HADH, LCEH, LCHAD, MTPA, TP-ALPHA |
Summary | This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. |
Genomic regions | Chromosome 2 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
HADHA-201 | ENST00000380649.8 | 2943 | 763aa | Protein coding | CCDS1721 | P40939-1 | NM_000182.5 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
HADHA-204 | ENST00000492433.2 | 2982 | 792aa | Protein coding | - | H0YFD6 | - | TSL:2, GENCODE basic, |
HADHA-209 | ENST00000645274.1 | 2576 | 728aa | Protein coding | - | A0A2R8Y4F5 | - | GENCODE basic, |
HADHA-208 | ENST00000644428.1 | 3087 | 499aa | Nonsense mediated decay | - | A0A2R8YG21 | - | - |
HADHA-205 | ENST00000643057.1 | 2977 | 37aa | Nonsense mediated decay | - | A0A2R8YDM1 | - | - |
HADHA-206 | ENST00000643063.1 | 2748 | 357aa | Nonsense mediated decay | - | A0A2R8Y688 | - | - |
HADHA-207 | ENST00000643233.1 | 2688 | 37aa | Nonsense mediated decay | - | A0A2R8YDM1 | - | - |
HADHA-211 | ENST00000646483.1 | 2158 | 82aa | Nonsense mediated decay | - | P40939-2 | - | - |
HADHA-210 | ENST00000646031.1 | 1842 | 54aa | Nonsense mediated decay | - | A0A2R8Y4E0 | - | CDS 5' incomplete, |
HADHA-202 | ENST00000461025.1 | 431 | No protein | Processed transcript | - | - | - | TSL:3, |
HADHA-203 | ENST00000471743.2 | 1485 | No protein | Retained intron | - | - | - | TSL:5, |
Target Gene | HADHA |
This KO Strategy | loading |
Red Cotton™ Notes | Gene HADHA had been KO in hek293t cell line. |
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