SPPL2A Chromosome 15
Signal peptide peptidase like 2A
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What This Gene Does
This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
Signal peptide peptidase like family
Locus Type
gene with protein product
Location
15q21.2
Ensembl
ENSG00000138600
Associated Conditions (1)
Immunodeficiency 86
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1328617979 | Health Risk | Pathogenic | Immunodeficiency 86, Immunodeficiency 86 |
| RS2141024987 | Health Risk | Pathogenic | Immunodeficiency 86, Immunodeficiency 86 |