Details of PGK1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PGK1 | PGKA | | P00558 | PGK1_HUMAN
| Q5J7W1
| Q6IBT6 | Phosphoglycerate kin |
Phenotypes
Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormality of blood and blood-forming tissues, Abnormality of central motor function, Abnormality of coordination, Abnormality of erythrocytes, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of renal physiology, Abnormality of reticulocytes, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the eye, Abnormality of the fundus, Abnormality of the genitourinary system, Abnormality of the hindbrain, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the posterior segment of the eye, Abnormality of the retina, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Abnormality of vision, All, Anemia, Anemia due to reduced life span of red cells, Ataxia, Behavioural/Psychiatric Abnormality, Diminished movement, Emotional lability, Exercise intolerance, Exercise-induced muscle cramps, Functional motor problems., Gonosomal inheritance, Headache, Hemolytic anemia, Hypokinesia, Migraine, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle cramps, Myoglobinuria, Myopathy, Nonspherocytic hemolytic anemia, Onset and clinical course, Phenotypic abnormality, Phenotypic variability, Renal insufficiency, Reticulocytosis, Retinal dystrophy, Rhabdomyolysis, Seizures, Visual impairment, Visual loss, X-linked inheritance, X-linked recessive inheritance.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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