C1QTNF9B
Description
The C1QTNF9B (C1q and TNF related 9B) is a protein-coding gene located on chromosome 13.
C1QTNF9B is thought to be an adipokine, a type of hormone produced by fat cells. It has been shown to activate several important signaling pathways involved in cell growth and metabolism, including AMPK, AKT, and p44/42 MAPK.
C1QTNF9B is also known as CTRP9B.
Associated Diseases
- obesity due to melanocortin 4 receptor deficiency
- obesity due to pro-opiomelanocortin deficiency
- obesity due to prohormone convertase I deficiency
- hypoinsulinemic hypoglycemia and body hemihypertrophy
- LIPE-related familial partial lipodystrophy
- obesity due to leptin receptor gene deficiency
- CIDEC-related familial partial lipodystrophy
- PLIN1-related familial partial lipodystrophy
- obesity due to congenital leptin deficiency
- thyroid hormone metabolism, abnormal 1
- short stature due to primary acid-labile subunit deficiency
- hyperinsulinemic hypoglycemia, familial, 1
- severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
- hyperinsulinemic hypoglycemia, familial, 2
- AKT2-related familial partial lipodystrophy
- hyperinsulinism due to HNF1A deficiency
- autosomal dominant hyperinsulinism due to Kir6.2 deficiency
