Details of ADCK3 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| ADCK3 | CABC1 | Q8NI60 | ADCK3_HUMAN | 56997
| ENSG00000163050
| Chaperone activity of bc1 complex-like, mitochondrial | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]: An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures. Note=The disease is caused by mutations affecting the gene represented in this entry. |
612016 |
Phenotypes
Abnormality of acid-base homeostasis, Abnormality of central motor function, Abnormality of circulating enzyme level, Abnormality of circulating protein level, Abnormality of coordination, Abnormality of eye movement, Abnormality of genital physiology, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle fibers, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of renal physiology, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the eye, Abnormality of the fundus, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hindbrain, Abnormality of the inner ear, Abnormality of the kidney, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the posterior segment of the eye, Abnormality of the renal tubule, Abnormality of the retina, Abnormality of the retinal pigment epithelium, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Abnormality of vision, Abnormal retinal pigmentation, Acidosis, Age of onset, All, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cognitive impairment, Diminished movement, Dysarthria, Elevated serum creatine phosphokinase, Encephalopathy, Functional abnormality of the inner ear, Global developmental delay, Glomerulopathy, Glomerulosclerosis, Hearing abnormality, Hearing impairment, Hypergonadotropic hypogonadism, Hypogonadism, Hypokinesia, Juvenile onset, Lactic acidosis, Memory impairment, Mode of inheritance, Morphological abnormalities of the glomeruli, Morphological abnormality of the central nervous system, Motor delay, Muscle weakness, Myoglobinuria, Nephrotic syndrome, Neurological speech impairment, Nystagmus, Onset, Onset and clinical course, Phenotypic abnormality, Phenotypic variability, Postural instability, Progressive muscle weakness, Proteinuria, Puberty and gonadal disorders, Ragged-red muscle fibers, Recurrent myoglobinuria, Retinitis pigmentosa, Scanning speech, Seizures, Sensorineural hearing impairment, Specific learning disability, Visual impairment, Visual loss.
