Gene: FBXL3

Alternate names for this Gene: FBL3|FBL3A|FBXL3A|IDDSFAS

Gene Summary: This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus.

Gene is located in Chromosome: 13

Location in Chromosome : 13q22.3

Description of this Gene: F-box and leucine rich repeat protein 3

Type of Gene: protein-coding

Gene: CLN5

Alternate names for this Gene: -

Gene Summary: 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.

Gene is located in Chromosome: 13

Location in Chromosome : 13q22.3

Description of this Gene: CLN5 intracellular trafficking protein

Type of Gene: protein-coding

rs104894385 in FBXL3;CLN5 gene and CEROID LIPOFUSCINOSIS, NEURONAL, 5 PMID 10953198 2000 Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).

PMID 12134079 2002 Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.

PMID 16814585 2006 Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

PMID 15728307 2005 A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

PMID 24058541 2013 The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.

PMID 19309691 2009 Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

PMID 20052765 2010 The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

PMID 9662406 1998 CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.

PMID 24038957 2013 Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 17607606 2007 Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

PMID 26342652 2015 Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.

PMID 26342652 2015 This is further supported by overexpression of a CLN5 patient mutant D279N and a glycosylation mutant N401Q, showing that the C-terminal processing takes place beyond the endoplasmic reticulum, and can occur as early as from the trans Golgi network.

PMID 20157158 2010 CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

PMID 22727047 2012 An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.

PMID 23374165 2013 Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

PMID 22532218 2012 [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].

PMID 23160995 2012 CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.

rs386833966 in FBXL3;CLN5 gene and Neuronal Ceroid-Lipofuscinoses PMID 20052765 2010 The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

PMID 11971870 2002 Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.

PMID 24058541 2013 The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.

PMID 9662406 1998 CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.

PMID 24038957 2013 Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.

PMID 20157158 2010 CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

PMID 22532218 2012 [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].

PMID 20960652 2008 Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.

PMID 12134079 2002 Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 26342652 2015 Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.

PMID 23374165 2013 Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

PMID 19201763 2009 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

rs587780315 in FBXL3;CLN5 gene and Seizures PMID 20157158 2010 CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.