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
