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Details of LMNB1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| LMNB1 | LMN2,LMNB | P20700 | LMNB1_HUMAN | 4001 | ENSG00000113368 | Lamin-B1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Leukodystrophy, demyelinating, autosomal dominant, adult- onset (ADLD) [MIM:169500]: A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. Note=The disease is caused by mutations affecting the gene represented in this entry. | 169500 | ||||||||
Phenotypes
Abnormal CNS myelination, Abnormal external genitalia, Abnormality of cardiovascular system physiology, Abnormality of central motor function, Abnormality of coordination, Abnormality of eye movement, Abnormality of genital physiology, Abnormality of higher mental function, Abnormality of male external genitalia, Abnormality of pyramidal motor function, Abnormality of skin adnexa, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the autonomic nervous system, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the esophagus, Abnormality of the eye, Abnormality of the forebrain, Abnormality of the gastrointestinal tract, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the glial cells, Abnormality of the hindbrain, Abnormality of the integument, Abnormality of the larynx, Abnormality of the male genitalia, Abnormality of the metencephalon, Abnormality of the nervous system, Abnormality of the penis, Abnormality of the peripheral nervous system, Abnormality of the respiratory system, Abnormality of the sweat gland, Abnormality of the upper respiratory tract, Abnormality of the urinary system, Abnormality of the voice, Abnormal peripheral myelination, Adult onset, Age of onset, All, Ataxia, Autonomic bladder dysfunction, Autonomic erectile dysfunction, Autosomal dominant inheritance, Babinski sign, Cognitive impairment, Decreased sweating due to autonomic dysfunction, Diaphoresis, Diffuse leukoencephalopathy, Dysarthria, Dysautonomia, Dysphagia, Dysphonia, Erectile abnormalities, Gliosis, Hyperhidrosis, Hyperreflexia, Hypertonia, Hypohidrosis, Hypotension, Impotence, Leukodystrophy, Leukoencephalopathy, Mental deterioration, Mode of inheritance, Morphological abnormality of the central nervous system, Neurological speech impairment, Nystagmus, Onset, Onset and clinical course, Orthostatic hypotension, Orthostatic hypotension due to autonomic dysfunction, Pace of progression, Peripheral demyelination, Phenotypic abnormality, Progressive disorder, Progressive neurologic deterioration, Pseudobulbar paralysis, Pseudobulbar signs, Spasticity, Symmetric peripheral demyelination.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Lmnb1 | Lam... | lmn-1 | Sp-Nefl | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| LMNB1 | RPA1 | 0.21952666 | LMNB1 | RPA1 | cpx209 | no | yes | no | Known |
| LMNB1 | RPA2 | 0.050785692 | LMNB1 | RPA2 | cpx209 | no | yes | no | Known |
| LMNB1 | RPA3 | 0.097337398 | LMNB1 | RPA3 | cpx209 | no | no | no | Novel |