CLN3 Gene

Alternative Names

  • CLN3
  • Battenin
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OMIM Number

607042

NCBI Gene ID

1201

Uniprot ID

Q13286

Length

28,923 bases

No. of Exons

16

No. of isoforms

7

Protein Name

Battenin

Molecular Mass

47623 Da

Amino Acid Count

438

Genomic Location

chr16:28,466,653-28,495,575

Gene Map Locus
16p11.2

Description

The CLN3 gene is located on chromosome 16p11.2, where it encodes a highly hydrophobic, multi-spanning transmembrane protein, whose function is not completely known. This protein is expressed in astrocytes, capillary endothelium and neurons of gray matter of the brain in peripheral nerve, pancreatic islet cells and within the seminiferous tubules of the testis. Several potential functions for the CLN3 protein have been proposed, including endocytosis and intracellular protein trafficking, lysosomal homeostasis, mitochondrial function, autophagy and amino-acid transport.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
CLN3, 6-KB DELMoroccoPathogenicPathogenicCeroid Lipofuscinosis, Neuronal, 33554
NM_000086.2:c.461-280_677+382delLebanonchr16: 28485965-28486930PathogenicPathogenicCeroid Lipofuscinosis, Neuronal, 3NG_008654.2:g.10373_11338del; NM_000086.2:c.461-280_677+382del15554686343552
NM_000086.2:c.597C>ALebanonNC_000016.10:g.28486427G>TLikely Pathogenic, PathogenicPathogenicCeroid Lipofuscinosis, Neuronal, 3NG_008654.2:g.10876C>A; NM_000086.2:c.597C>A; NP_000077.1:p.Tyr199Ter2676067373557

Other Reports

United Arab Emirates

Al-Jasmi et al, 2013, studied the prevalence of lysosomal storage diseases in the UAE. Two Emirati patients with Batten disease were found to suffer from homozygous deletions of the exon 3, introns 6 and 8, and exons 11, 14 and 15 in the CLN3 gene. 

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