| 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 several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]
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 several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Colorectal Neoplasms | 243 | 0.0 | 0.0 |
| Disease Progression | 136 | 0.0 | 0.0 |
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 1 | 0.0 | 0.0 |
| Metabolism, Inborn Errors | 17 | 0.0 | 0.0 |
| Vitamin B 12 Deficiency | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| astrocytic glioma | 2597 | 9.0e-03 |
| oligodendroglioma | 2850 | 1.1e-02 |
| breast carcinoma | 1638 | 1.2e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Adrenoleukodystrophy | 29 | 5.699 | 2.8 |
| Peroxisomal disease | 22 | 3.713 | 1.9 |
| Disease | Target Count |
|---|---|
| Methylmalonic acidemia with homocystinuria, type cblJ | 1 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytic glioma | 1.100 | 9.0e-03 |
| breast carcinoma | 1.200 | 1.2e-02 |
| oligodendroglioma | 1.100 | 1.1e-02 |
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 //
