• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SDHAF1 (HGNC:33867) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
succinate dehydrogenase complex assembly factor 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
LYRM8
%HI
74.19(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.09(Read more about gnomAD pLI score)
LOEUF
1.9(Read more about gnomAD LOEUF score)
Cytoband
19q13.12
Genomic Coordinates
GRCh37/hg19: chr19:36486090-36487214 NCBI Ensembl UCSC
GRCh38/hg38: chr19:35995188-35996312 NCBI Ensembl UCSC
MANE Select Transcript
NM_001042631.3 ENST00000378887.4 (Read more about MANE Select)
Function
Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol (PubMed:24954417, PubMed:19465911). Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting i... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-1534
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • mitochondrial complex II deficiency, nuclear type 1 Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)