MFSD8 wt Allele

Preferred Label : MFSD8 wt Allele;

NCIt synonyms : MGC33302; CLN7; Ceroid-Lipofuscinosis, Neuronal 7, Late Infantile Gene; CCMD; Ceroid-Lipofuscinosis, Neuronal 7, Late Infantile, Variant Gene; Major Facilitator Superfamily Domain Containing 8 wt Allele;

NCIt definition : Human MFSD8 wild-type allele is located in the vicinity of 4q28.2 and is approximately 48 kb in length. This allele, which encodes major facilitator superfamily domain-containing protein 8, plays a role in lysosome activity. Missense mutations in the gene are associated with both macular dystrophy with central cone involvement and late infantile-onset neuronal ceroid lipofuscinosis (vLINCL; neuronal ceroid lipofuscinosis type 7; CLN7 Batten disease).;

NCI Metathesaurus CUI : CL936788;

GenBank Accession Number : AK074564;

Details

Origin ID

C157081;

UMLS CUI

C4761610;

Automatic exact mappings (from CISMeF team)
- CLN7 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal, 7 [OMIM Phenotype]
- Macular dystrophy with central cone involvement [OMIM Phenotype]
- Major facilitator superfamily domain-containing protein 8 [OMIM gene]
- major facilitator superfamily domain containing 8 [ORDO Gene]
- neuronal ceroid lipofuscinosis 7 [DO Concept]
OMIM relation
- Major facilitator superfamily domain-containing protein 8 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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