N-acetylated-alpha-linked acidic dipeptidase-like protein 2 (NAALADase L2, NAALADL2)
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Function
may be catalytically inactive
Structure
- belongs to the peptidase M28 family, M28B subfamily
- although related to the peptidase M28 family, it is probably inactive as an hydrolase due to lack of the conserved Zn+2-binding & active sites
Compartment
membrane
Alternative splicing
named isoforms=2
Expression
- expressed at high level in kidney & placenta
- in embryo, it is mainly confined to duodenal & stomach endoderm, mesonephros, metanephros & pancreas
Genetics
- gene maps to 3q26.31, a region associated with Cornelia de Lange syndrome
- specific mutations in a panel of DNA samples from patients with Cornelia de Lange syndrome not identified[2]
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q58DX5.html
- ↑ 2.0 2.1 Need authors, title... PMID: https://www.ncbi.nlm.nih.gov/pubmed/15168106