CLN5 Intracellular Trafficking Protein

Alternative Names

  • CLN5
  • CLN5 Gene
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OMIM Number

608102

NCBI Gene ID

1203

Uniprot ID

O75503

Length

13,037 bases

No. of Exons

5

Protein Name

Bis(monoacylglycero)phosphate synthase CLN5

Molecular Mass

41497 Da

Amino Acid Count

358

Genomic Location

chr13:76,992,081-77,005,117

Gene Map Locus
13q22.3

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_006493.4:c.448C>TSaudi ArabiaNC_000013.11:g.76996010C>TLikely Pathogenic, PathogenicPathogenicCeroid Lipofuscinosis, Neuronal, 5NG_009064.1:g.9087C>T; NM_006493.4:c.448C>T; NP_006484.2:p.Arg150Ter546989392205144
NM_006493.4:c.510_514dupSaudi ArabiaNC_000013.11:g.76996072_76996076dupLikely Pathogenic, PathogenicPathogenicCeroid Lipofuscinosis, Neuronal, 5NG_009064.1:g.9149_9153dup; NM_006493.4:c.510_514dup; NP_006484.2:p.Asp172ValfsTer121555274005434793
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