SERF1B

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Description

The SERF1B (small EDRK-rich factor 1B) is a protein-coding gene located on chromosome 5.

SERF1B is a positive regulator of amyloid protein aggregation and proteotoxicity. It induces conformational changes in amyloid proteins, such as APP, HTT, and SNCA, driving them into compact formations preceding the formation of aggregates.

SERF1B is also known as FAM2B, H4F5C, h4F5.

Associated Diseases

• cholesterol-ester transfer protein deficiency
• hypertriglyceridemia 2
• 22q11.2 deletion syndrome
• familial apolipoprotein C-II deficiency
• thyroid hormone metabolism, abnormal, 2
• sitosterolemia
• homozygous familial hypercholesterolemia
• glycogen storage disease VI
• hypercholesterolemia, autosomal dominant, 3
• hyperlipidemia due to hepatic triglyceride lipase deficiency
• immunodeficiency 80 with or without congenital cardiomyopathy
• hypercholesterolemia, autosomal dominant, type B
• pontocerebellar hypoplasia
• cancer