Fields »

GENE AND PROTEIN SUMMARY

? »

Gene name

CLN8

Description

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

Medium

Entrez gene summary

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 progressive epilepsy with mental retardation (EMPR), 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. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

1 in total
1 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

? »

Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

? »

Pending normal tissue analysis

CANCER TISSUE SUMMARY

? »

Pending cancer tissue analysis

CELL LINE SUMMARY

? »

RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Medium

-

-

A-549 Lung Medium

-

-

CACO-2 Colon Medium

-

-

HEK 293 Embryonal kidney Medium

-

-

HeLa Cervix Low

-

-

Hep-G2 Liver Medium

-

-

MCF-7 Pleural effusion Medium

-

-

PC-3 Bone marrow Medium

-

-

RT-4 Urinary bladder Medium

-

-

U-2 OS Bone Medium

-

-

U-251 MG Brain Medium

-

-

ANTIBODY SUMMARY

? »

Pending antibodies