Tbio | ATP-binding cassette sub-family D member 4 |
May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm.
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding. [provided by RefSeq, Jul 2008]
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding. [provided by RefSeq, Jul 2008]
Comments
Disease | Target Count | P-value |
---|---|---|
astrocytic glioma | 2241 | 0.00901624870306783 |
oligodendroglioma | 2849 | 0.0110158883755062 |
breast carcinoma | 1614 | 0.0115903502545001 |
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
Adrenoleukodystrophy | 31 | 5.69 | 2.8 |
Peroxisomal disease | 20 | 3.732 | 1.9 |
Methylmalonic acidemia | 39 | 3.463 | 1.7 |
Disease | Target Count |
---|---|
Methylmalonic acidemia with homocystinuria, type cblJ | 1 |
Disease | Target Count |
---|---|
Methylmalonic aciduria and homocystinuria type cblJ | 1 |
Disease | log2 FC | p |
---|---|---|
astrocytic glioma | 1.100 | 0.009 |
oligodendroglioma | 1.100 | 0.011 |
breast carcinoma | 1.200 | 0.012 |
Species | Source |
---|---|
Chimp | OMA EggNOG |
Macaque | OMA EggNOG Inparanoid |
Mouse | OMA EggNOG Inparanoid |
Rat | OMA EggNOG Inparanoid |
Dog | OMA EggNOG Inparanoid |
Horse | OMA EggNOG Inparanoid |
Cow | OMA EggNOG Inparanoid |
Opossum | EggNOG Inparanoid |
Chicken | OMA EggNOG Inparanoid |
Anole lizard | OMA EggNOG Inparanoid |
Xenopus | OMA EggNOG Inparanoid |
Zebrafish | OMA EggNOG Inparanoid |
C. elegans | OMA Inparanoid |
PMID | Text |
---|---|
25535791 | Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC. |
22922874 | mutations altering the putative ATPase domain of ABCD4 affect its function, suggesting that the ATPase activity of ABCD4 may be involved in intracellular processing of vitamin B12. |
21514256 | Defects in ABCB4 have been found to cause progressive familial intrahepatic cholestasis type 3. |
20661612 | Observational study of gene-disease association. (HuGE Navigator) |
19343046 | Observational study of gene-disease association. (HuGE Navigator) |
15800013 | expression tends to be correlated with the severity of X-linked adrenoleukodystrophy |
MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLEQFVIYQVGLIPSQYYGV 1 - 70 LGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQFTCNLLYVSWRKDLTEHLHRLYFRGRAYYTLNVLRDDID 71 - 140 NPDQRISQDVERFCRQLSSMASKLIISPFTLVYYTYQCFQSTGWLGPVSIFGYFILGTVVNKTLMGPIVM 141 - 210 KLVHQEKLEGDFRFKHMQIRVNAEPAAFYRAGHVEHMRTDRRLQRLLQTQRELMSKELWLYIGINTFDYL 211 - 280 GSILSYVVIAIPIFSGVYGDLSPAELSTLVSKNAFVCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRET 281 - 350 LLDMSLKSQDCEILGESEWGLDTPPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLIT 351 - 420 GNTGTGKTSLLRVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKEVYPDSGSADD 421 - 490 ERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYLQPKYAVLDEATSALTEEVES 491 - 560 ELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWELMRIKVE 561 - 606 //
PMID | Year | Title |
---|---|---|
25535791 | Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4. | |
22922874 | 2012 | Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. |
21514256 | 2011 | Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3. |
20661612 | 2011 | Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. |
19343046 | 2009 | Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. |
18029348 | 2008 | Toward a confocal subcellular atlas of the human proteome. |
16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |
15909363 | 2005 | Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34. |
15800013 | 2005 | Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. |
15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
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