| Gene Symbol |
MFSD8
|
| Entrez Gene |
256471
|
| Alt Symbol |
CCMD, CLN7
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
major facilitator superfamily domain containing 8
|
| Other Description |
ceroid-lipofuscinosis, neuronal 7, late infantile|major facilitator superfamily domain-containing protein 8
|
| Swissprots |
Q8NHS3 Q8N2P3 B7Z205 B2RDM1
|
| Accessions |
EAX05193 EAX05194 EAX05195 Q8NHS3 AA242881 AK074564 BAC11062 AK294184 BAH11691 AK294439 BAH11766 AK294527 BAH11798 AK294957 BAH11934 AK315596 BAG37968 BC029503 AAH29503 BI553701 BQ015234 CB956202 CN310788 CX873070 DA481070 JF432263 ADZ15480 XM_005262893 XP_005262950 XM_005262896 XP_005262953 XM_005262897 XP_005262954 XM_005262898 XP_005262955 XM_005262900 XP_005262957 XM_011531830 XP_011530132 XM_011531831 XP_011530133 XM_011531832 XP_011530134 XR_938717 NM_152778 NP_689991
|
| Function |
May be a carrier that transport small solutes by using chemiosmotic ion gradients. {ECO:0000305}.
|
| Subcellular Location |
Lysosome membrane {ECO:0000269|PubMed:17564970, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:20406422}; Multi-pass membrane protein {ECO:0000269|PubMed:17564970, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:20406422}. Note=Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.
|
| Tissue Specificity |
Expressed at very low levels in all tissues tested. {ECO:0000269|PubMed:17564970}.
|
| Top Pathways |
Lysosome
|