Description: | phenylalanine hydroxylase [Source:HGNC Symbol;Acc:HGNC:8582] |
Synonyms: | PKU1, PKU, PH |
Other ID(s): | HGNC:8582, ENSG00000171759 |
Protein Accession Numbers: | ENST00000307000, NP_000268, ENST00000551337, ENST00000553106.1, ENST00000546844, NP_001341233, ENST00000553106 |
Statistics: | gnomAD(441) COSMIC(567) |
∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000307000
ENST00000546844
ENST00000551337
ENST00000553106
NP_000268
NP_001341233
Pfam Domain filter_list | Domain Name filter_list | Description filter_list | Positions filter_list | Clan filter_list | Clan Name filter_list | Organism filter_list |
---|---|---|---|---|---|---|
NO RESULT FOUND | ||||||
NO DOMAINS EXIST |
Disease Name filter_list | Disease Category filter_list | DSI* filter_list | DPI** filter_list | ||
---|---|---|---|---|---|
Bipolar Disorder | Mental Disorders ; | 0.575 | 0.552 | ||
Phenylketonurias | Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; | 0.575 | 0.552 | ||
Psychotic Disorders | Mental Disorders ; | 0.575 | 0.552 | ||
Schizophrenia | Mental Disorders ; | 0.575 | 0.552 | ||
Phenylketonuria, Maternal | Nervous System Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; | 0.575 | 0.552 | ||
Phenylketonuria II | Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; | 0.575 | 0.552 | ||
Epileptic encephalopathy | N/A | 0.575 | 0.552 | ||
Classical phenylketonuria | Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; | 0.575 | 0.552 | ||
Hyperphenylalaninaemia | Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; | 0.575 | 0.552 | ||
Hyperphenylalaninemia, Non-Phenylketonuric | Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; | 0.575 | 0.552 | ||
Hyperphenylalaninemia, Non-Pku Mild | Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; | 0.575 | 0.552 | ||
Intellectual Disability | Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; | 0.575 | 0.552 | ||
NO RESULT FOUND |