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ceroid-lipofuscinosis neuronal protein 5 (CLN5)
Structure: glycosylated
Compartment: lysosome
Expression: ubiquitous
Pathology:
- defects in CLN5 are the cause of infantile ceroid lipofuscinosis neuronal 5
Laboratory:
- CLN5 gene mutation
Related
infantile neuronal ceroid lipofuscinosis 5 (Finnish variant, late-infantile neuronal ceroid lipofuscinosis)
General
ceroid-lipofuscinosis neuronal protein
glycoprotein
Properties
SIZE: MW = 46 kD
entity length = 407 aa
COMPARTMENT: cellular membrane
MOTIF: transmembrane domain {75-91}
N-glycosylation site {N179}
N-glycosylation site {N192}
N-glycosylation site {N227}
N-glycosylation site {N252}
N-glycosylation site {N304}
N-glycosylation site {N320}
N-glycosylation site {N330}
N-glycosylation site {N401}
Database Correlations
OMIM correlations
MORBIDMAP 608102
UniProt O75503
References
UniProt :accession O75503