Description
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit [Source:HGNC Symbol;Acc:4801]
Gene Synonyms
ECHA, GBP, HADH, LCEH, LCHAD, MTPA, TP-ALPHA
Location
Chromosome 2: 26,413,504-26,467,594 reverse strand.
GRCh37:CM000664.1
About this gene
This gene has 5 transcripts (splice variants), 2 paralogues and is associated with 7 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000380649.3 | HADHA-001 | 3037 | 763aa | ENSP00000370023.3 | Protein coding | CCDS1721 | B4DDZ5 E9KL44 P40939 Q9UQC5 | NM_000182.4 | Ensembl Canonical, GENCODE basic, |
ENST00000457468.2 | HADHA-201 | 1485 | 260aa | ENSP00000405344.2 | Protein coding | B4DYP2 | - | GENCODE basic, | |
ENST00000492433.1 | HADHA-004 | 752 | 250aa | ENSP00000438039.1 | Protein coding | H0YFD6 | - | CDS 5' and 3' incomplete, | |
ENST00000461025.1 | HADHA-003 | 431 | No protein | - | Processed transcript | - | - | - | |
ENST00000471743.1 | HADHA-002 | 690 | No protein | - | Retained intron | - | - | - |