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GENATLAS PHENOTYPE |
last update : 31-05-2014 |
Symbol | HFND |
Location | 17p13-p12 |
Name | hepatic failure and neurologic disorder |
Corresponding gene | SCO1 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/lipoprotein-lipid |
Type | disease |
Gene product |
Name | SCO (cytochrome oxidase deficient, yeast) homolog 1 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
| P174L
| |
Remark(s) |
Genotype/Phenotype correlations | P174L, mutation altering the structure around the metal-binding site, affects both copper(I) binding and redox properties of the protein, thus impairing the efficiency of copper transfer to cytochrome C oxidase, associated with a fatal neonatal hepatopathy when the second allele also is nonfunctional |