CLN8 Gene

Alternative Names

CLN8

Length

45,934 bases

No. of Exons

No. of isoforms

Protein Name

Protein CLN8

Molecular Mass

32787 Da

Amino Acid Count

286

Genomic Location

chr8:1,755,778-1,801,711

Gene Map Locus

8p23.3

Description

This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_018941.3:c.610C>T	Lebanon	chr8:1780316	Pathogenic	Pathogenic	Ceroid Lipofuscinosis, Neuronal, 8	NG_008656.2:g.29539C>T; NM_018941.3:c.610C>T; NP_061764.2:p.Arg204Cys	104894060	2804
NM_018941.4:c.209G>A	Saudi Arabia	NC_000008.11:g.1771263G>A	Likely Pathogenic, Pathogenic	Likely Pathogenic	Ceroid Lipofuscinosis, Neuronal, 8	NG_008656.2:g.20486G>A; NM_018941.4:c.209G>A; NP_061764.2:p.Arg70His	386834124	56704

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External Links

https://ghr.nlm.nih.gov/gene/CLN8 https://www.genecards.org/cgi-bin/carddisp.pl?gene=CLN8 https://www.ncbi.nlm.nih.gov/gene?term=2055

Contributors

Pratibha Nair: 22.04.2020

Edit History

Pratibha Nair: 23.11.2023
Pratibha Nair: 22.04.2020

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