Official symbol | ABCD3 |
Gene id | 5825 |
Organism | Homo sapiens |
Official full symbol | ATP binding cassette subfamily D member 3 |
Gene type | protein-coding |
Also known as | ABC43, CBAS5, PMP70, PXMP1, ZWS2 |
Summary | 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. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. |
Genomic regions | Chromosome 1 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
ABCD3-202 | ENST00000370214.9 | 3604 | 659aa | Protein coding | CCDS749 | P28288-1 | NM_002858.4 | TSL:1, GENCODE basic, APPRIS P2, MANE Select v0.92, |
ABCD3-201 | ENST00000315713.5 | 884 | 236aa | Protein coding | CCDS44175 | P28288-3 | - | TSL:1, GENCODE basic, |
ABCD3-207 | ENST00000647998.2 | 3538 | 659aa | Protein coding | - | A0A3B3ITW3 | - | APPRIS ALT1, |
ABCD3-205 | ENST00000484213.1 | 4367 | No protein | Processed transcript | - | - | - | TSL:1, |
ABCD3-203 | ENST00000464165.1 | 3174 | No protein | Processed transcript | - | - | - | TSL:2, |
ABCD3-204 | ENST00000468860.1 | 661 | No protein | Processed transcript | - | - | - | TSL:3, |
ABCD3-206 | ENST00000493416.5 | 623 | No protein | Processed transcript | - | - | - | TSL:5, |
Target Gene | ABCD3 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene ABCD3 had been KO in hela cell line. |
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