Entity Details

Primary name MFSD8_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NHS3
EntryNameMFSD8_HUMAN
FullNameMajor facilitator superfamily domain-containing protein 8
TaxID9606
Evidenceevidence at protein level
Length518
SequenceStatuscomplete
DateCreated2007-11-13
DateModified2021-06-02

Ontological Relatives

GenesMFSD8

GO terms

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GOName
GO:0005765 lysosomal membrane
GO:0007040 lysosome organization
GO:0010506 regulation of autophagy
GO:0016021 integral component of membrane
GO:0022857 transmembrane transporter activity
GO:0038202 TORC1 signaling
GO:0048666 neuron development
GO:0097352 autophagosome maturation
GO:1905165 regulation of lysosomal protein catabolic process

Subcellular Location

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Subcellular Location
Lysosome membrane

Domains

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DomainNameCategoryType
IPR011701 Major facilitator superfamilyFamilyFamily
IPR020846 Major facilitator superfamily domainDomainDomain
IPR036259 MFS transporter superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
616170 OMIMMacular dystrophy with central cone involvement (CCMD)An ocular disease characterized by decreased visual acuity, slight pigmentary changes and color vision abnormalities, becoming apparent in the third to sixth decade of life. Fundus anomalies are variable and include bull's eye maculopathy, severe atrophy of central fovea, relatively spared fovea with surrounding atrophic ring, central retinal pigment epithelium and/or choroid changes, pale or atrophic peripapillary area, pale optic disk, relatively spared periphery, and slightly or moderately attenuated vessels. The disease is caused by variants affecting the gene represented in this entry.
610951 OMIMCeroid lipofuscinosis, neuronal, 7 (CLN7)A form of neuronal ceroid lipofuscinosis with onset in early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The disease is caused by variants affecting the gene represented in this entry.

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