Gene: U2AF1L4

Alternate names for this Gene: U2AF1-RS3|U2AF1L3|U2AF1L3V1|U2AF1RS3|U2af26

Gene Summary:

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.12

Description of this Gene: U2 small nuclear RNA auxiliary factor 1 like 4

Type of Gene: protein-coding

Gene: PSENEN

Alternate names for this Gene: ACNINV2|MDS033|MSTP064|PEN-2|PEN2

Gene Summary: Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.12

Description of this Gene: presenilin enhancer, gamma-secretase subunit

Type of Gene: protein-coding