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H.sapiens
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Details of HMBS gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| HMBS | PBGD,UPS | P08397 | HEM3_HUMAN | 3145 | ENSG00000256269 ENSG00000261883 | Porphobilinogen deaminase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Acute intermittent porphyria (AIP) [MIM:176000]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Note=The disease is caused by mutations affecting the gene represented in this entry. | 176000 | ||||||||
Phenotypes
Abdominal pain, Abdominal symptom, Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormality of blood and blood-forming tissues, Abnormality of cardiovascular system physiology, Abnormality of central motor function, Abnormality of erythrocytes, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the bladder, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the gastrointestinal tract, Abnormality of the genitourinary system, Abnormality of the intestine, Abnormality of the liver, Abnormality of the lower urinary tract, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the respiratory system, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Acute episodes of neuropathic symptoms, All, Anxiety, Arrhythmia, Autosomal dominant inheritance, Behavioural/Psychiatric Abnormality, Constipation, Depression, Diarrhea, Functional abnormality of the bladder, Functional respiratory abnormality, Gastrointestinal dysmotility, Gastrointestinal obstruction, Hepatocellular carcinoma, Hypertension, Ileus, Intestinal obstruction, Mode of inheritance, Muscle weakness, Nausea, Nausea and vomiting, Neoplasm, Neoplasm by anatomical site, Neoplasm of the gastrointestinal tract, Neoplasm of the liver, Paralysis, Paralytic ileus, Paresthesia, Peripheral neuropathy, Phenotypic abnormality, Psychosis, Psychotic episodes, Respiratory paralysis, Seizures, Sensory neuropathy, Tachycardia, Urinary incontinence, Urinary retention, Vomiting, Weakness of muscles of respiration.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Hmbs | --- | --- | Sp-Hmbs | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| TP53I3 | HMBS | 0.120499135 | TP53I3 | HMBS | cpx500 | no | no | no | Novel |