NSD1
Encyclopedia
NSD1 is a transcription coregulator
protein
associated with Sotos syndrome
and Weaver syndrome
.
Transcription coregulator
In molecular biology and genetics, transcription coregulators are proteins that interact with transcription factors to either activate or repress the transcription of specific genes. Transcription coregulators that activate gene transcription are referred to as coactivators while those that...
protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
associated with Sotos syndrome
Sotos syndrome
Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. The disorder may be accompanied by autism mild mental retardation, delayed motor, cognitive, and social development, hypotonia , and speech impairments...
and Weaver syndrome
Weaver syndrome
Weaver syndrome is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features. It was first described by Weaver in 1974....
.