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HADHB
Overview
Alias
ECHB; MSTP029; MTPB; TP-BETA
Associated disorders
The HADHB gene is associated with autosomal recessive mitochondrial trifunctional protein deficiency (MedGen UID: 87460).
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HADHB
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Invitae tests that include this gene:
Clinical sensitivity
An estimated 32% of trifunctional protein deficiency case are due to pathogenic variants in the HADHB gene (PMID:21549624).
Gene function
HADHB encodes the beta subunit of the mitochondrial trifunctional protein enzyme complex which is comprised of four alpha and four beta subunits. The complex is involved in beta-oxidation of long chain fatty acids. The HADHB protein catalyzes the final step of beta-oxidation, where 3-ketoacyl-CoA is cleaved by the thiol group of another molecule of Coenzyme A (PMID: 15902556).
References
- Olpin, SE, et al. Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. J. Inherit. Metab. Dis. 2005; 28(4):533-44. PMID: 15902556
- Boutron, A, et al. Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. Mol. Genet. Metab. 2011; 103(4):341-8. PMID: 21549624
Assay
Assay and technical information
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
| Gene | Transcript reference | Sequencing analysis | Deletion/Duplication analysis |
|---|---|---|---|
| HADHB | NM_000183.2 |
Resources
References
- Olpin, SE, et al. Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. J. Inherit. Metab. Dis. 2005; 28(4):533-44. PMID: 15902556
- Boutron, A, et al. Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. Mol. Genet. Metab. 2011; 103(4):341-8. PMID: 21549624
