This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Presenilin-2.
May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins.
Human | |
---|---|
Gene Name: | PSEN2 |
Uniprot: | P49810 |
Entrez: | 5664 |
Belongs to: |
---|
peptidase A22A family |
AD3LP; AD4AD3L; AD5; E5-1; EC 3.4.23; EC 3.4.23.-; presenilin 2 (Alzheimer disease 4); Presenilin2; Presenilin-2; PS-2; PS2CMD1V; PSEN2; PSNL2; STM2STM-2
Mass (kDA):
50.14 kDA
Human | |
---|---|
Location: | 1q42.13 |
Sequence: | 1; NC_000001.11 (226870572..226903829) |
Isoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney.
Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.
PMID: 7638622 by Levy-Lahad E., et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus.
PMID: 7651536 by Rogaev E.I., et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.