Description:
CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3
CLN3 GENE; CLN3
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
CLN3 |
| Chromosomal Location |
16p12.1 |
| Allelic Variant 1 |
204200.0001; BATTEN DISEASE |
| Identified Mutation |
1-KB DEL, NT598; The International Batten Disease Consortium (1995) demonstrated that the mutation responsible for 73% of Batten disease chromosomes as identified by the 56 haplotype is a genomic deletion of 1.02 kb, including 217 bp of the open reading frame (nucleotides 598-814), corresponding to 2 exons. Deletion of these 217 bp of coding sequence produces a frameshift, generating a TAA termination codon 84 bp downstream of the deletion junction. The predicted translation product is a truncated protein of 181 amino acids consisting of the first 153 residues of the protein, followed by 28 novel amino acids before the stop codon.
Even more of the patients in Finland carry the 1.02-kb deletion, namely 90%. Jarvela et al. (1996) developed a rapid diagnostic solid-phase minisequencing test to detect this deletion. |
| |
| Gene |
CLN3 |
| Chromosomal Location |
16p12.1 |
| Allelic Variant 2 |
; BATTEN DISEASE |
| Identified Mutation |
1-BP DEL, NT424 |
| Remarks |
Clinically affected; seizures at age 5 years; EM profile showed curvilinear, fingerprint, and granular osmiophillic deposits; donor subject is a compound heterozygote: one allele has a 1.02 kb deletion including 217 bp of the open reading frame (nucleotides 598-814), corresponding to 2 exons resulting in a frameshift that generates a termination codon 84 bp downstream of the deletion junction [1-KB DEL, NT598] and a second allele has a 1 bp deletion at nucleotide 424 in exon 6 of the CLN3 gene resulting in a frameshift after L141 [c.424delG]. |
| Gene Cards |
CLN3 |
| Gene Ontology |
GO:0005739 mitochondrion |
|
GO:0005764 lysosome |
|
GO:0006457 protein folding |
|
GO:0016020 membrane |
|
GO:0016021 integral to membrane |
|
GO:0051082 unfolded protein binding |
| NCBI Gene |
Gene ID:1201 |
| NCBI GTR |
204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 |
|
607042 CLN3 LYSOSOMAL/ENDOSOMAL TRANSMEMBRANE PROTEIN, BATTENIN; CLN3 |
| OMIM |
204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 |
|
607042 CLN3 LYSOSOMAL/ENDOSOMAL TRANSMEMBRANE PROTEIN, BATTENIN; CLN3 |
| Omim Description |
AMAUROTIC FAMILY IDIOCY, JUVENILE TYPE |
| |
BATTEN DISEASE; BTS |
| |
CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 |
| |
NEURONAL CEROID LIPOFUSCINOSIS, JUVENILE TYPE; JNCL |
| |
VOGT-SPIELMEYER DISEASE |
|
|