RSC1A1

Description

The RSC1A1 (regulator of solute carriers 1) is a protein-coding gene located on chromosome 1.

RSC1A1 regulates the expression of SLC5A1 at both the transcriptional and post-transcriptional levels. It blocks the release of SLC5A1-containing vesicles from the trans-Golgi network, inhibiting a dynamin and PKC-dependent exocytotic pathway. RSC1A1 also regulates the transcription of SLC22A2. RSC1A1's activity is glucose-dependent, leading to a short-term inhibition of both SLC5A1 and SLC22A2.

RSC1A1 is also known as RS1.

Associated Diseases

• obesity due to melanocortin 4 receptor deficiency
• obesity due to leptin receptor gene deficiency
• obesity due to prohormone convertase I deficiency
• obesity due to pro-opiomelanocortin deficiency
• severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
• coronary artery disease, autosomal dominant 2
• obesity due to congenital leptin deficiency
• short stature due to primary acid-labile subunit deficiency
• X-linked retinoschisis