Sec61 translocon alpha 1 subunit
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]
Plays a crucial role in the insertion of secretory and membrane polypeptides into the ER (PubMed:28782633). Required for assembly of membrane and secretory proteins. Tightly associated with membrane-bound ribosomes, either directly or through adapter proteins. Plays a role in pronephric kidney tubule development.
From NCBI Gene:
- Hyperuricemic nephropathy, familial juvenile, 4
Defects in SEC61A1 may be a cause of autosomal dominant hypogammaglobulinemia, resulting in severe recurrent infections, mainly of the respiratory tract. Disease onset is mostly in the first year of life. Affected subjects manifest reduced antibodies production by plasma cells, in the presence of normal subpopulations of B and T cells in the peripheral blood. Patients respond well to immunoglobulin replacement therapy.
Familial juvenile hyperuricemic nephropathy 4 (HNFJ4): An autosomal dominant renal disorder characterized by progressive chronic kidney disease, anemia, elevated serum creatinine levels, and hyperuricemia. [MIM:617056]