Gene Symbol |
CLN8
|
Entrez Gene |
2055
|
Alt Symbol |
C8orf61, EPMR
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
Other Description |
protein CLN8
|
Swissprots |
Q9UBY8 Q96I95 Q86U71
|
Accessions |
CAI93436 EAW51477 EAW51478 EAW51479 Q9UBY8 AF123757 AAF13115 AF123758 AAF13116 AF123759 AAF13117 AF123760 AAF13118 AF123761 AAF13119 AK096736 BAC04854 AK312486 AW296697 BC007725 AAH07725 BC136825 AAI36826 BC141858 BT007049 AAP35698 DA193710 XM_005266021 XP_005266078 XM_005266022 XP_005266079 XM_005266023 XP_005266080 XM_006725753 XP_006725816 XM_006725754 XP_006725817 XM_006725755 XP_006725818 XM_011534745 XP_011533047 XM_011534746 XP_011533048 XM_011534747 XP_011533049 XM_011547744 XP_011546046 XM_011547745 XP_011546047 XM_011547746 XP_011546048 NM_018941 NP_061764 NM_001034061
|
Function |
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. {ECO:0000269|PubMed:19431184}.
|
Subcellular Location |
Endoplasmic reticulum membrane {ECO:0000269|PubMed:10861296}; Multi-pass membrane protein {ECO:0000269|PubMed:10861296}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:10861296}; Multi-pass membrane protein {ECO:0000269|PubMed:10861296}.
|