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Details of PCBD1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PCBD1 | DCOH | PCBD | P61457 | PHS_HUMAN
| P80095
| Q9D930 | Hyperphenylalanin |
Phenotypes
Abnormal muscle tone, Abnormality of amino acid metabolism, Abnormality of aromatic amino acid family metabolism, Abnormality of carboxylic acid metabolism, Abnormality of central motor function, 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 the central nervous system, Abnormality of the musculature, Abnormality of the nervous system, All, Autosomal recessive inheritance, Cognitive impairment, Global developmental delay, Hypertonia, Mode of inheritance, Motor delay, Muscular hypotonia, Phenotypic abnormality, Transient hyperphenylalaninemia, Tremor.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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