Gene: RAI1

Alternate names for this Gene: SMCR|SMS

Gene Summary: This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients.

Gene is located in Chromosome: 17

Location in Chromosome : 17p11.2

Description of this Gene: retinoic acid induced 1

Type of Gene: protein-coding

Gene: SREBF1

Alternate names for this Gene: HMD|IFAP2|SREBP1|bHLHd1

Gene Summary: This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively.

Gene is located in Chromosome: 17

Location in Chromosome : 17p11.2

Description of this Gene: sterol regulatory element binding transcription factor 1

Type of Gene: protein-coding