2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
8PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
aminopeptidase activitycalcium ion bindingzinc ion bindingprotein homodimerization activityneurodegenerative diseaseoptic atrophygoutRetinal dystrophy
Based on limited published evidence, NAALADL1 encodes a zinc-dependent metallopeptidase with broad aminopeptidase activity 1. The enzyme lacks carboxypeptidase and dipeptidyl-peptidase IV activities, and shows reduced activity toward substrates with Asp/Glu at P2' position or Pro at P3' position 1. NAALADL1 is primarily expressed in the small intestine, suggesting a role in final stages of protein/peptide digestion and absorption 1. The protein functions as a homodimer and binds zinc and calcium ions. NAALADL1 shares structural homology with glutamate carboxypeptidase II but possesses distinct substrate specificity.
1
NAALADL1 is a zinc-dependent metallopeptidase with aminopeptidase activity, lacks carboxy- and endopeptidase activities, primarily expressed in small intestine
PMID: 257526122
NAALADL1 identified as protein related to PSMA but does not bind PSMA-targeting radioligands with significant affinity
PMID: 36184692β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
optic atrophyOpen Targets
Retinal dystrophyOpen Targets
metabolic syndromeOpen Targets
Crohn's diseaseOpen Targets
migraine disorderOpen Targets
ulcerative colitisOpen Targets
colorectal cancerOpen Targets
uterine leiomyosarcomaOpen Targets
type 1 diabetes mellitusOpen Targets
systemic lupus erythematosusOpen Targets
prostate cancerOpen Targets
myelodysplastic syndromeOpen Targets
dedifferentiated liposarcomaOpen Targets
infectious diseaseOpen Targets
gastric cancerOpen Targets
Uterine CarcinosarcomaOpen Targets
NM_005468.3(NAALADL1):c.1509-1G>ALikely pathogenic
Optic atrophy|Ovarian serous cystadenocarcinoma
ββββ2023