Metazoan complexes |
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Details of PNP gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| PPY | PNP | P01298 | PAHO_HUMAN | 5539 | ENSG00000108849 | Pancreatic prohormone Pancreatic hormone Pancreatic icosapeptide | SPROT |
| PNP | NP | P00491 | PNPH_HUMAN | 4860 | ENSG00000198805 | Purine nucleoside phosphorylase | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]: A disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by- products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment. Note=The disease is caused by mutations affecting the gene represented in this entry. | 613179 |
Phenotypes
Abnormal axial skeleton morphology, Abnormality of B cell physiology, Abnormality of B cells, Abnormality of blood and blood-forming tissues, Abnormality of body weight, Abnormality of cellular immune system, Abnormality of central motor function, Abnormality of coordination, Abnormality of erythrocytes, Abnormality of facial skeleton, Abnormality of granulocytes, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of immune system physiology, Abnormality of leukocytes, Abnormality of lymphocytes, Abnormality of movement, Abnormality of muscle physiology, Abnormality of myeloid leukocytes, Abnormality of neutrophils, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of T cell physiology, Abnormality of T cells, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the ear, Abnormality of the face, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the immune system, Abnormality of the lung, Abnormality of the lymphatic system, Abnormality of the lymph nodes, Abnormality of the metencephalon, Abnormality of the middle ear, Abnormality of the musculature, Abnormality of the nasopharynx, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the pharynx, Abnormality of the respiratory system, Abnormality of the sinuses, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the spleen, Abnormality of the vasculature, Abnormal muscle tone, Abnormal neutrophil cell number, All, Anemia, Anemia due to reduced life span of red cells, Ataxia, Autoimmune hemolytic anemia, Autoimmune neutropenia, Autoimmunity, Autosomal recessive inheritance, Cerebral vasculitis, Cognitive impairment, Decreased body weight, Failure to thrive, Global developmental delay, Growth abnormality, Hematological neoplasm, Hemolytic anemia, Hypertonia, Impaired T cell function, Intellectual disability, Lymph node hypoplasia, Lymphoma, Lymphopenia, Markedly reduced T cell function, Mode of inheritance, Morphological abnormality of the central nervous system, Motor delay, Muscular hypotonia, Neoplasm, Neoplasm by anatomical site, Neutropenia, Otitis media, Paralysis due to lesions of the principle motor tracts, Phenotypic abnormality, Pneumonia, Recurrent infections, Recurrent lower respiratory tract infections, Recurrent opportunistic infections, Recurrent respiratory infections, Recurrent upper respiratory tract infections, Respiratory tract infection, Sinusitis, Spastic diplegia, Spasticity, Splenomegaly, Tetraparesis, Tremor, Vasculitis, Visceromegaly.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Pnp... | CG16758 | K02D7.1 | Sp-Np |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
ECHDC1 | PNP | 0.15599077 | ECHDC1 | PNP | cpx530 | no | no | no | Novel |