基因名称(Gene Name)
FHL1 SLIM1
免疫原
Synthesized peptide derived from human FHL1 AA range: 66-116
特异性
This antibody detects endogenous levels of FHL1 at Human/Mouse/Rat
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
来源
Polyclonal, Rabbit,IgG
纯化工艺
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景
This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009],
功能
developmental stage:Elevated levels during postnatal muscle growth.,disease:Defects in FHL1 are the cause of X-linked childhood-onset reducing body myopathy (RBM) [MIM:300718]. This disorder is allelic to severe early-onset reducing body myopathy (RBM) [MIM:300717].,disease:Defects in FHL1 are the cause of X-linked dominant scapuloperoneal myopathy [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.,disease:Defects in FHL1 are the cause of 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
