Smith Magenis Syndrome Chromosome Region, Candidate 8 (SMCR8)

SMCR8 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.

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.