Identity
HGNC
LOCATION
14q24.3
LOCUSID
ALIAS
ABC41,EST352188,MAHCJ,P70R,P79R,PMP69,PXMP1L
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5826
MIM: 603214
HGNC: 68
Ensembl: ENSG00000119688
Variants:
dbSNP: 5826
ClinVar: 5826
TCGA: ENSG00000119688
COSMIC: ABCD4
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33729671 | 2021 | Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course. | 0 |
| 33729671 | 2021 | Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course. | 0 |
| 30651581 | 2019 | Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations. | 1 |
| 31467407 | 2019 | Cryo-EM structure of human lysosomal cobalamin exporter ABCD4. | 20 |
| 30651581 | 2019 | Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations. | 1 |
| 31467407 | 2019 | Cryo-EM structure of human lysosomal cobalamin exporter ABCD4. | 20 |
| 28572511 | 2017 | Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1. | 11 |
| 28572511 | 2017 | Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1. | 11 |
| 27456980 | 2016 | Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1. | 15 |
| 27766264 | 2016 | ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease. | 26 |
| 27456980 | 2016 | Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1. | 15 |
| 27766264 | 2016 | ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease. | 26 |
| 25535791 | 2014 | Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4. | 11 |
| 25535791 | 2014 | Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4. | 11 |
| 22922874 | 2012 | Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. | 78 |
Citation
Dessen P
ABCD4 (ATP binding cassette subfamily D member 4)
Atlas Genet Cytogenet Oncol Haematol. 2017-08-01
Online version: http://atlasgeneticsoncology.org/gene/56911/abcd4-(atp-binding-cassette-subfamily-d-member-4)
