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MT000208

Record overview

MITO ID	MT000208
Gene ID	2055
Species	Homo sapiens (Human)
Gene Name	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Gene Symbol	CLN8
Synonyms	EPMR; C8orf61;
Alternate names	protein CLN8;
Chromosome	8
Map Location	8p23
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]
Orthologs	View orthologs and multiple alignments for CLN8

Proteins

protein CLN8

Refseq ID:	NP_061764
Protein GI:	31083053
UniProt ID:	Q9UBY8
mRNA ID:	NM_018941
Length:	286
RefSeq Status:

`MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAAGLWALLGDPVLHADKARGQQ NWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLAMTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHM FHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLALLTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP`