Gene: EIF2B4

Alternate names for this Gene: EIF-2B|EIF2B|EIF2Bdelta

Gene Summary: Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.3

Description of this Gene: eukaryotic translation initiation factor 2B subunit delta

Type of Gene: protein-coding

Gene: SNX17

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.3

Description of this Gene: sorting nexin 17

Type of Gene: protein-coding