 | | VARIANT: 256471v1 | |
| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
MFSD8 major facilitator superfamily domain-containing protein 8 isoform 1 [KO: K12307]
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
| H00149 | Neuronal ceroid lipofuscinosis |
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| Reference |
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| Authors |
Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE |
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| Title |
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. |
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| Journal |
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| Reference |
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| Authors |
Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB |
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| Title |
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. |
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| Journal |
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| LinkDB |
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