SERF1A

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Description

The SERF1A (small EDRK-rich factor 1A) is a protein-coding gene located on chromosome 5.

SERF1A positively regulates the aggregation and toxic effects of amyloid proteins. It induces conformational changes in amyloid proteins, including APP, HTT, and SNCA, promoting their compaction before forming aggregates. This activity is supported by several studies (PubMed:20723760, PubMed:22854022, PubMed:31034892).

SERF1A is also known as 4F5, FAM2A, H4F5, SERF1, SMAM1.

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