Cln8 Gene Search Result

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4 records found for search term Cln8

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1346223	CLN8	CLN8 transmembrane ER and ERGIC protein	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 compartmen ... (more) t. 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. [provided by RefSeq, Jul 2017]	8	1753059	1786570	Human	348	symbol , COSMIC , name , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
16560032	CLN8-AS1	CLN8 antisense RNA 1	INTERACTS WITH aristolochic acid A; okadaic acid	8	1761963	1764584	Human	2	symbol , COSMIC , name , Human Proteome Map	gene, ncrna, VALIDATED [RefSeq]
735624	COIL	coilin	The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the ... (more) coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008]	17	56938199	56961050	Human	91	old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
1323138	CERS5	ceramide synthase 5	This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splic ... (more) ing results in multiple transcript variants. [provided by RefSeq, Aug 2013]	12	50129289	50167369	Human	108	description	gene, protein-coding, REVIEWED [RefSeq]