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GENE AND PROTEIN SUMMARY

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Gene name

CLN6

Description

ceroid-lipofuscinosis, neuronal 6, late infantile, variant

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

Medium

Entrez gene summary

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. [provided by RefSeq, Oct 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

7 in total
6 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin High

-

-

A-549 Lung High

-

-

CACO-2 Colon High

-

-

HEK 293 Embryonal kidney High

-

-

HeLa Cervix High

-

-

Hep-G2 Liver High

-

-

MCF-7 Pleural effusion High

-

-

PC-3 Bone marrow High

-

-

RT-4 Urinary bladder High

-

-

U-2 OS Bone High

-

-

U-251 MG Brain High

-

-

ANTIBODY SUMMARY

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Pending antibodies