T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases

Skeletal Muscle

Table 1 Proteins implicated in triad organization, roles and associated human diseases^a

	Phenotype in humans		Phenotype in rodents
Proteins	Skeletal muscle	Cardiac muscle	Skeletal muscle	Cardiac muscle	Membrane binding	Membrane events	Associated human diseases
CAV3	Yes	Yes	Yes	Yes	Cholesterol binding	Caveolae formation	LGMD-1C, RMD, FHC, LQTS
BIN1	Yes	Yes	n.r.	Yes	Phosphoinositide binding	Membrane tubulation	ARCNM
DYSF	Yes	Yes	Yes	Yes	Transmembrane/phospholipid binding	Membrane repair	Dysferlinopathies
MG29	n.r.	n.r.	Yes	No	Transmembrane binding	Triad structure	n.r.
JPH1	n.r.	n.r.	Yes	No	Phospholipid binding	Sarcolemma and SR junction formation	n.r.
MTM1	Yes	No	Yes	No	Phosphoinositide binding	Membrane transport	XLMTM (XLCNM)

^an.r., not reported; LGMD-1C, limb-girdle muscular dystrophy type 1C; RMD, rippling muscle disease; FHC, familial hypertrophic cardiomyopathy; LQTS, long-QT syndrome; ARCNM, autosomal recessive centronuclear myopathy; SR, sarcoplasmic reticulum; XLMTM, X-linked myotubular myopathy; XLCNM, X-linked centronuclear myopathy.

ISSN: 2044-5040