Smith Magenis Syndrome Chromosome Region, Candidate 7 (SMCR7)

SMCR7 encodes a protein of unknown function. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Expressed in all tissues tested with highest expression in heart and skeletal muscle.

Smith–Magenis Syndrome (SMS) is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate mental retardation, distinctive facial features, sleep disturbances, and behavioral problems. Smith-Magenis syndrome affects an estimated 1 in 25,000 individuals. The syndrome is due to an abnormality in the short (p) arm of chromosome 17 and is sometimes called the 17p- syndrome.