Metazoan complexes |
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Details of FHL1 gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| FHL1 | SLIM1 | Q13642 | FHL1_HUMAN | 2273 | ENSG00000022267 | Four and a half LIM domains protein 1 | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
X-linked dominant scapuloperoneal myopathy (SPM) [MIM:300695]: Scapuloperoneal syndrome (SPS) was initially described more than 120 years ago by Jules Broussard as 'une forme hereditaire d'atrophie musculaire progressive' beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. The etiology of this condition remains unclear. Note=The disease is caused by mutations affecting the gene represented in this entry. | 300695 | X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:300696]: Myopathies are inherited muscle disorders characterized by weakness and atrophy of voluntary skeletal muscle, and several types of myopathy also show involvement of cardiac muscle. XMPMA is a distinct form of adult-onset X-linked recessive myopathy with several features in common with other myopathies, but the presentation of a pseudoathletic phenotype, scapuloperoneal weakness, and bent spine is unique and might render the clinical phenotype distinguishable from other myopathies. Note=The disease is caused by mutations affecting the gene represented in this entry. | 300696 | X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]: Rare muscle disorder causing progressive muscular weakness and characteristic intracytoplasmic inclusions in myofibers. Clinical presentations of RBM have ranged from early- onset fatal to childhood onset to adult onset cases. Note=The disease is caused by mutations affecting the gene represented in this entry. | 300717 | X-linked childhood-onset reducing body myopathy (CO-RBM) [MIM:300718]: This disorder is allelic to severe early-onset reducing body myopathy (RBM). Note=The disease is caused by mutations affecting the gene represented in this entry. | 300718 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Fhl1 | FBgn0050178... | --- | SPU_007981 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
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Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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