SDHAF1 succinate dehydrogenase complex assembly factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SDHAF1provided by HGNC
Official Full Name: succinate dehydrogenase complex assembly factor 1provided by HGNC
Primary source: HGNC:HGNC:33867
See related: Ensembl:ENSG00000205138 MIM:612848; AllianceGenome:HGNC:33867
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LYRM8; MC2DN2
Summary: The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010]
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35995188..35996312)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38540986..38542110)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36486090..36487214)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Parallel functional assessment of m(6)A sites in human endodermal differentiation with base editor screens.
Title: Parallel functional assessment of m(6)A sites in human endodermal differentiation with base editor screens.
that SDHAF1 contributes to iron-sulfur (Fe-S) cluster incorporation into the Fe-S subunit of CII, SDHB.
Title: Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.
Studies indicate that an array of tumor syndromes caused by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 have been identified over a decade.
Title: The role of complex II in disease.
Leukoencephalopathy with accumulated succinate is a key symptom of defective complex II assembly due to SDHAF1 mutations
Title: Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial complex 2 deficiency, nuclear type 2 MedGen: C5436933 OMIM: 619166 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-16129 (e-PCR)
- UniSTS:28695

RH65900 (e-PCR)
- UniSTS:20849

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial respiratory chain complex II assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial respiratory chain complex II assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: succinate dehydrogenase assembly factor 1, mitochondrial

Names: LYR motif containing 8; LYR motif-containing protein 8; SDH assembly factor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016869.2 RefSeqGene

Range

5002..6126

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001042631.3 → NP_001036096.2 succinate dehydrogenase assembly factor 1, mitochondrial

Status: REVIEWED

Source sequence(s)

AF038458, BC007205, BM695501

Consensus CDS

CCDS32999.1

UniProtKB/Swiss-Prot

A6NFY7, B2RPM7

Related

ENSP00000368165.2, ENST00000378887.4

Conserved Domains (1) summary

cd20268
Location:5 → 63

Complex1_LYR_SDHAF1_LYRM8; LYR (leucine-tyrosine-arginine) motif found in mitochondrial succinate dehydrogenase assembly factor 1 (SDHAF1) and similar proteins