該基因編碼的蛋白質屬于ferlin家族,是與肌膜相關的骨骼肌蛋白它參與肌肉收縮,并含有C2結構域,在鈣介導的膜融合事件中發揮作用,提示它可能參與膜再生和修復。此外,由該基因編碼的蛋白結合了caveolin-3,一種骨骼肌膜蛋白,在caveolae的形成過程中起重要作用該基因的特異性突變可導致常染色體隱性遺傳性肢帶型肌營養不良2b(lgmd2b)和三好肌病。選擇性剪接導致多個轉錄變體[由RefSeq提供,2008年8月]
The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]