2wp3 | pdb_00002wp3
From Proteopedia
Crystal structure of the Titin M10-Obscurin like 1 Ig complex
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Structural highlights
DiseaseOBSL1_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] FunctionEvolutionary ConservationCheck, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. See AlsoReferences
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This page was last modified 07:10, 1 May 2024.