C1orf43

---

Description

The C1ORF43 (chromosome 1 open reading frame 43) is a protein-coding gene located on chromosome 1.

C1ORF43 plays a role in phagocytosis, a process where cells engulf and destroy foreign particles like bacteria. Specifically, it is essential for macrophages to take up Gram-negative bacteria.

C1ORF43 is also known as HSPC012, NICE-3, NICE3, NS5ATP4, S863-3.

Associated Diseases

• cholesterol-ester transfer protein deficiency
• isolated asymptomatic elevation of creatine phosphokinase
• hypertriglyceridemia 2
• pentosuria
• chylomicron retention disease
• pancreatic triacylglycerol lipase deficiency
• sitosterolemia
• thyroid hormone metabolism, abnormal, 2
• homozygous familial hypercholesterolemia
• congenital diarrhea 7 with exudative enteropathy
• congenital lethal erythroderma
• familial apolipoprotein C-II deficiency
• familial idiopathic steroid-resistant nephrotic syndrome
• hyperlipidemia due to hepatic triglyceride lipase deficiency