SFXN4 Chromosome 10
Sideroflexin 4
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What This Gene Does
This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|Solute carrier family 56, sideroflexins"
Locus Type
gene with protein product
Location
10q26.11
Ensembl
ENSG00000183605
Associated Conditions (2)
Inborn genetic diseases
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Key Variants
RS1254398721
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151157939
Conflicting classifications of pathogenicity
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Health Risk
RS200465740
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS368065380
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS749944766
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754192985
Conflicting classifications of pathogenicity
Health Risk
RS977248748
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS762968127
Likely pathogenic
Health Risk
RS781171561
Likely pathogenic
Health Risk
RS1156283736
Pathogenic
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Health Risk
RS1380193482
Pathogenic
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Health Risk
RS147648163
Pathogenic
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1254398721 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151157939 | Health Risk | Conflicting classifications of pathogenicity | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
| RS200465740 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368065380 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749944766 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754192985 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS977248748 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762968127 | Health Risk | Likely pathogenic | — |
| RS781171561 | Health Risk | Likely pathogenic | — |
| RS1156283736 | Health Risk | Pathogenic | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
| RS1380193482 | Health Risk | Pathogenic | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
| RS147648163 | Health Risk | Pathogenic | — |
| RS1554886159 | Health Risk | Pathogenic | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
| RS2133612740 | Health Risk | Pathogenic | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
| RS2493890591 | Health Risk | Pathogenic | — |
| RS398124642 | Health Risk | Pathogenic | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
| RS1589625048 | Health Risk | Pathogenic/Likely pathogenic | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
| RS367932369 | Health Risk | Pathogenic/Likely pathogenic | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
| RS756173225 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Inborn genetic diseases |