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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 | 5092 | ENSG00000166228 | Pterin-4-alpha-carbinolamine dehydratase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070]: An autosomal recessive disease characterized by primapterinuria, a variant form of hyperphenylalaninemia defined by increased excretion of 7-substituted pterins in the urine. Patients with primapterinuria show an increased ratio of neopterin to biopterin in the urine, excretion of subnormal levels of biopterins, and normal levels of biogenic amines in cerebrospinal fluid. Neurologic signs are mild, present in the neonatal period only, and include hypotonia, delayed motor development and tremor. Note=The disease is caused by mutations affecting the gene represented in this entry. | 264070 | ||||||||
Phenotypes
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, Abnormal muscle tone, 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 | ||||||
| Pcbd1 | --- | pcbd-1 | Sp-Pcbd... | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| UAP1L1 | PCBD1 | 0.120904911 | UAP1L1 | PCBD1 | cpx227; cpx406 | no | no | no | Novel |
| AFMID | PCBD1 | 0.127744075 | AFMID | PCBD1 | cpx406 | no | no | no | Novel |
| WDR1 | PCBD1 | 0.197739069 | WDR1 | PCBD1 | cpx227 | no | no | no | Novel |