SEPSECS Antibody

1. Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase has been described. PMID: 27576344
2. Epileptic encephalopathy with burst suppression without brain malformations is associated with pathogenic variation in SEPSECS. PMID: 28133863
3. The progression of clinical symptoms in these families is evidently slower than in previously reported cases, and the cerebellar atrophy milder by brain MRI, indicating that SEPSECS mutations are also involved in milder late-onset cerebellar atrophy. PMID: 26888482
4. results suggest SEPSECS as a candidate gene for progressive encephalopathies with lactate elevation. PMID: 26115735
5. structural analysis of the terminal catalytic complex in selenocysteine synthesis PMID: 25190812
6. Data suggest SEPSECS silencing in placental trophoblasts inhibits proliferation, induces apoptosis, and reduces production of progesterone/chorionic gonadotropin (P/hCG); SEPSECS over-expression promotes cell proliferation and secretion of P/hCG. PMID: 23966103
7. The human SepSecS protein is also known as soluble liver antigen/liver pancreas (SLA/LP), which represents one of the antigens of autoimmune hepatitis. PMID: 20623998
8. SepSecS mutations cause autosomal-recessive progressive cerebellocerebral atrophy in Jews of Iraqi and Moroccan ancestry. PMID: 20920667
9. detectable in liver extracts of autoimmune hepatitis patients' cells as the major autoantigenic component PMID: 19683415
10. crystal structure of tRNA(Sec) in complex with SepSecS, phosphoserine, and thiophosphate, together with in vivo and in vitro enzyme assays, supports a pyridoxal phosphate-dependent mechanism of Sec-tRNA(Sec) formation PMID: 19608919

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HGNC: 30605

OMIM: 613009

KEGG: hsa:51091

STRING: 9606.ENSP00000371535

UniGene: Hs.253305