Dec 24, 2024 · EIF2B1 (Eukaryotic Translation Initiation Factor 2B Subunit Alpha) is a Protein Coding gene. Diseases associated with EIF2B1 include Leukoencephalopathy With Vanishing White Matter 1 and Leukoencephalopathy With Vanishing White Matter 5 .

Translation initiation factor eIF-2B subunit alpha is a protein that in humans is encoded by the EIF2B1 gene. [5]

eIF2B is a protein complex found in eukaryotes. It is the guanine nucleotide exchange factor for the eukaryotic initiation factor 2 and therefore converts the inactive eIF2- GDP to the active eIF2- GTP.

The EIF2B1 gene provides instructions for making one of five parts of a protein called eIF2B, specifically the alpha subunit of this protein. The eIF2B protein helps regulate overall protein production (synthesis) in the cell by interacting with another protein, eIF2.

Our results establish de novo EIF2B1 mutations as a novel cause of permanent diabetes and liver dysfunction. These findings confirm the importance of cell stress regulation for beta-cells and highlight EIF2B1's fundamental role within this pathway.

Jan 4, 2025 · De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction. Different Eukaryotic Initiation Factor 2Bε Mutations Lead to Various Degrees of Intolerance to the Stress of Endoplasmic Reticulum in Oligodendrocytes.

The EIF2B1 gene encodes EIF2B-alpha, the smallest subunit of the eukaryotic translation initiation factor eIF2B, which is a heterodecameric complex comprising 5 subunits: alpha (EIF2B1), beta (EIF2B2; 606454), gamma (EIF2B3; 606273), delta (EIF2B4; 606687), and epsilon (EIF2B5; 603945).

Gene ID: 209354, updated on 8-Feb-2025. This gene encodes the alpha subunit of the eukaryotic translation initiation factor complex 2B (eIF2B). The eIF2B complex is a heterodecamer comprised of two molecules each of alpha, beta, gamma, delta and epsilon subunits.

The EIF2B1 gene provides instructions for making one of five parts of a protein called eIF2B, specifically the alpha subunit of this protein. The eIF2B protein helps regulate overall protein production (synthesis) in the cell by interacting with another protein, eIF2.

Our results establish de novo EIF2B1 mutations as a novel cause of permanent diabetes and liver dysfunction. These findings confirm the importance of cell stress regulation for β-cells and highlight EIF2B1's fundamental role within this pathway.