Details of LRPPRC gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| LRPPRC | LRP130 | P42704 | LPPRC_HUMAN | 10128
| Q53PC0
| Q53QN7 | --- |
Disease |
|---|
| Disease |
OMIM id |
| Leigh syndrome French-Canadian type (LSFC) [MIM:220111]: Severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. In the Saguenay-Lac Saint Jean region of Quebec province in Canada |
hypotonia |
Phenotypes
Abnormal axial skeleton morphology, Abnormal hair pattern, Abnormal muscle tone, Abnormal nasal morphology, Abnormal shape of the frontal region, Abnormality of acid-base homeostasis, Abnormality of calvarial morphology, Abnormality of central motor function, Abnormality of coordination, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrospinal fluid, Abnormality of the external nose, Abnormality of the face, Abnormality of the forehead, Abnormality of the frontal hairline, Abnormality of the glial cells, Abnormality of the hair, Abnormality of the hairline, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the integument, Abnormality of the liver, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nares, Abnormality of the nasal alae, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the scalp, Abnormality of the scalp hair, Abnormality of the skeletal system, Abnormality of the skull, Acidosis, Age of onset, All, Anteverted nares, Ataxia, Autosomal recessive inheritance, Cognitive impairment, Congenital abnormal hair pattern, Frontal bossing, Gliosis, Global developmental delay, Hepatic steatosis, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased serum lactate, Infantile onset, Lactic acidosis, Lipid accumulation in hepatocytes, Low anterior hairline, Microvesicular hepatic steatosis, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Onset, Onset and clinical course, Phenotypic abnormality, Tremor.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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