CLN6 Transmembrane ER Protein

Alternative Names

  • CLN6
  • CLN6 Gene
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OMIM Number

606725

NCBI Gene ID

54982

Uniprot ID

Q9NWW5

Length

50,220 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Ceroid-lipofuscinosis neuronal protein 6

Molecular Mass

35919 Da

Amino Acid Count

311

Genomic Location

chr15:68,206,992-68,257,211

Gene Map Locus
15q23

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_017882.3:c.791CCT[1]Saudi ArabiaNC_000015.10:g.68208282GAG[1]Likely Pathogenic, PathogenicLikely PathogenicCeroid Lipofuscinosis, Neural, 6ANG_008764.2:g.53927CCT[1]; NM_017882.3:c.791CCT[1]; NP_060352.1:p.Ser265del768422260205182
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