| LTP | Disease | References |
|---|---|---|
| α-Tocopherol transfer protein | Ataxia with isolated vitamin E deficiency (OMIM 277460) | Ouahchi et al., 1995 |
| Microsomal triglyceride transfer protein | Abetalipoproteinemia (OMIM 200100) | Shoulders et al., 1993 |
| Niemann-Pick C1 protein | Niemann-Pick disease type C1 (OMIM 257220) | Carstea et al., 1997 |
| Niemann-Pick C2 protein | Niemann-Pick disease type C2 (OMIM 607625) | Naureckiene et al., 2000 |
| Steroid acute regulatory protein | Lipoid congenital adrenal hyperplasia (OMIM 201710) | Lin et al., 1995 |
| Vps13A | Chorea-acanthocytosis (OMIM 200150) | Rampoldi et al., 2001 |
| Vps13B | Cohen syndrome (OMIM 216550) | Kolehmainen et al., 2003 |
| Vps13C | Early onset Parkinson’s disease (OMIM 616840) | Lesage et al., 2016 |
| Vps13D | Spastic ataxia (OMIM 607317) | Gauthier et al., 2018; Seong et al., 2018 |
| LTP | Disease | References |
|---|---|---|
| α-Tocopherol transfer protein | Ataxia with isolated vitamin E deficiency (OMIM 277460) | |
| Microsomal triglyceride transfer protein | Abetalipoproteinemia (OMIM 200100) | |
| Niemann-Pick C1 protein | Niemann-Pick disease type C1 (OMIM 257220) | |
| Niemann-Pick C2 protein | Niemann-Pick disease type C2 (OMIM 607625) | |
| Steroid acute regulatory protein | Lipoid congenital adrenal hyperplasia (OMIM 201710) | |
| Vps13A | Chorea-acanthocytosis (OMIM 200150) | |
| Vps13B | Cohen syndrome (OMIM 216550) | |
| Vps13C | Early onset Parkinson’s disease (OMIM 616840) | |
| Vps13D | Spastic ataxia (OMIM 607317) |
OMIM, Online Mendelian Inheritance in Man number.
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