Details of PTS gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PTS | --- | Q03393 | PTPS_HUMAN | 5805
| ENSG00000150787
| 6-pyruvoyl tetrahydrobiopterin synthase | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]: An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet. Note=The disease is caused by mutations affecting the gene represented in this entry. |
261640 |
Phenotypes
Abdominal symptom, Abnormal axial skeleton morphology, Abnormal emotion/affect behavior, Abnormality of amino acid metabolism, Abnormality of aromatic amino acid family metabolism, Abnormality of body weight, Abnormality of carboxylic acid metabolism, Abnormality of central motor function, Abnormality of coordination, Abnormality of extrapyramidal motor function, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of phenylalanine metabolism, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of temperature regulation, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the esophagus, Abnormality of the forebrain, Abnormality of the gastrointestinal tract, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the skeletal system, Abnormality of the skull, Abnormal muscle tone, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Ataxia, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Bradykinesia, Chorea, Choreoathetosis, Cognitive impairment, Decreased body weight, Dysphagia, Dystonia, Episodic fever, Feeding difficulties, Feeding difficulties in infancy, Fever, Global developmental delay, Growth abnormality, Hyperphenylalaninemia, Hyperreflexia, Intellectual disability, Intellectual disability, progressive, Involuntary movements, Irritability, Mental deterioration, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Motor delay, Muscular hypotonia, Parkinsonism, Phenotypic abnormality, Poor suck, Progressive neurologic deterioration, Reduced consciousness/confusion, Rigidity, Seizures, Small for gestational age, Somnolence, Tremor.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Pts | pr | ptps-1 | |
