5fm5 | pdb_00005fm5
From Proteopedia
Crystal structure of the myomesin:obscurin-like-1 complex
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Structural highlights
Disease[OBSL1_HUMAN] Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2) [MIM:612921]. An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.[1] Function[MYOM1_HUMAN] Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent. References
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This page was last modified 10:50, 10 December 2016.