Recombinant Human Ceroid-lipofuscinosis neuronal protein 5 (CLN5)

Uniprot Id

O75503

Target Species

Human

Target Name

CLN5

Target Full Name

Bis(monoacylglycero)phosphate synthase CLN5

Target Function

Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane.

Target Involvement

Ceroid lipofuscinosis, neuronal, 5 (CLN5)

Target Subcellular Location

[Ceroid-lipofuscinosis neuronal protein 5, secreted form]: Lysosome.; [Ceroid-lipofuscinosis neuronal protein 5]: Membrane; Single-pass type II membrane protein.

Target Protein Families

CLN5 family

Target Tissue Specificity

Ubiquitous.

Target Research Area

Others

Target Synonyms

Ceroid lipofuscinosis neuronal 5; Ceroid-lipofuscinosis neuronal protein 5; CLN5; CLN5_HUMAN; NCL; Protein CLN5

Target Background

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.