SURF1 Chromosome 9
SURF1 cytochrome c oxidase assembly factor
Upload your DNA to see your personal genotypes for variants in SURF1.
What This Gene Does
This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
9q34.2
Ensembl
ENSG00000148290
Associated Conditions (24)
Leigh syndrome
Mitochondrial complex IV deficiency
nuclear type 1
Thyroid cancer
nonmedullary
1
Ovarian serous cystadenocarcinoma
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4K
Cholangiocarcinoma
Lung cancer
Cervical cancer
See cases
Muscle weakness
Abnormal pyramidal sign
Dysarthria
Cerebellar ataxia
SURF1-related disorder
Mitochondrial disease
Hepatocellular carcinoma
+4 more conditions
Key Variants
RS1187982748
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1
Health Risk
RS1193858183
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS1277150134
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
RS138050767
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
RS141425824
Conflicting classifications of pathogenicity
Leigh syndrome, Thyroid cancer, nonmedullary
Health Risk
RS1456292063
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
RS147993882
Conflicting classifications of pathogenicity
Leigh syndrome, Inborn genetic diseases, Leigh syndrome
Health Risk
RS1554768224
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4K, Leigh syndrome, Charcot-Marie-Tooth disease type 4K
Health Risk
RS1836579970
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Inborn genetic diseases
Health Risk
RS200702528
Conflicting classifications of pathogenicity
Leigh syndrome, Inborn genetic diseases, Cholangiocarcinoma
Health Risk
RS2119079774
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS369080027
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
All Variants (160)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2490623261 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS2490628066 | Health Risk | Likely pathogenic | Leigh syndrome, Leigh syndrome |
| RS2490628954 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS781787822 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS782214884 | Health Risk | Likely pathogenic | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS782509657 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS782788600 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4K, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS863224230 | Health Risk | Likely pathogenic | — |
| RS863224926 | Health Risk | Likely pathogenic | Leigh syndrome, Leigh syndrome |
| RS1053850536 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1057517942 | Health Risk | Pathogenic | Leigh syndrome, Charcot-Marie-Tooth disease type 4K, Mitochondrial complex IV deficiency |
| RS1057520688 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1196972648 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS121918657 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS121918658 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS1219762677 | Health Risk | Pathogenic | Leigh syndrome, Charcot-Marie-Tooth disease type 4K, Leigh syndrome |
| RS1220688120 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1244071473 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1333638410 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1363125797 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1391748504 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1410388157 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1442463591 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS147816470 | Health Risk | Pathogenic | Leigh syndrome, SURF1-related disorder, Mitochondrial complex IV deficiency |
| RS1554768709 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1564349176 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1588689993 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS1588691694 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS1836430953 | Health Risk | Pathogenic | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS1836461848 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1836518719 | Health Risk | Pathogenic | — |
| RS1836518975 | Health Risk | Pathogenic | — |
| RS1836519031 | Health Risk | Pathogenic | — |
| RS1836590086 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome, Leigh syndrome |
| RS1836592105 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome, Leigh syndrome |
| RS2119079745 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS2119079986 | Health Risk | Pathogenic | — |
| RS2119081117 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS2119081217 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS2119081408 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS2119083367 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS2119083553 | Health Risk | Pathogenic | Leigh syndrome, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS2119085025 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS2119085056 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS2119085074 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS2119088472 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS2490613319 | Health Risk | Pathogenic | — |
| RS2490613394 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS2490613548 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS2490613671 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |