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          • Home
          • › Search Tool
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          • › Hs04123918_cn
          See other ABCD1 CNV Assays ›
          Gene Symbol
          ABCD1
          Assay Reference Genome
          Location

          Chr.X:153738227 on build GRCh38
          Cytoband
          Assay ID Hs04123918_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          215

          Gene Name:

          ATP binding cassette subfamily D member 1

          Gene Aliases:

          ABC42, ALD, ALDP, AMN

          Location:

          Chr.X:153724856-153744755 on Build GRCh38

          Assay Gene Location:

          Within Intron 6
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          ABCD1 NM_000033.4 NP_000024.2
          NM_001440747.1
          XM_047441916.1 XP_047297872.1
          XM_047441917.1 XP_047297873.1
          BC015541.1 AAH15541.1
          BC025358.1 AAH25358.1
          Z21876.1 CAA79922.1

          Target Gene Details

          Entrez Gene ID:

          102723591

          Gene Name:

          PLXNB3 antisense RNA 1

          Gene Aliases:

          -

          Location:

          Chr.X:153734852-153766471 on Build GRCh38

          Assay Gene Location:

          Within Exon 5
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          PLXNB3-AS1 NR_199693.1 2 441
          NR_199694.1 3 549
          NR_199695.1 4 660
          NR_199696.1 3 581

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          esv33199 Chr.X:153065734 - 154591978 on Build GRCh38 Gain+Loss ATP6AP1-DT RENBP TAFAZZIN MIR3202-1 CTAG1A LAGE3 SLC10A3 IKBKG PNMA6E NAA10 PDZD4 TMEM187 HCFC1 BGN FLNA GDI1 HAUS7 ECMXP SNORA70 DNASE1L1 MIR12129 G6PD L1CAM-AS1 MIR3202-2 ZNF275 IDH3G SRPK3 MIR6858 OPN1MW EMD L1CAM ATP6AP1 OPN1LW FAM223A MAGEA1 MECP2 TREX2 PNCK CCNQ UBL4A HCFC1-AS1 PLXNB3-AS1 ATP2B3 RPL10 PLXNB3 PWWP4 TKTL1 BCAP31 ARHGAP4 ABCD1 OPN1MW3 LOC105373383 MIR718 ZFP92 DUSP9 PNMA6A PNMA6F IRAK1 TEX28 FAM50A SLC6A8 SSR4 LOC105373378 AVPR2 LOC105373386 FAM3A PLXNA3 OPN1MW2
          nsv4049537 Chr.X:153704296 - 153765235 on Build GRCh38 Duplication PLXNB3 PLXNB3-AS1 BCAP31 ABCD1
          esv21656 Chr.X:153687433 - 153750282 on Build GRCh38 Gain+Loss PLXNB3-AS1 SLC6A8 BCAP31 ABCD1 PNCK

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          More Information


          Set Membership:

          Intragenic Exonic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          very long-chain fatty acid metabolic process
          regulation of oxidative phosphorylation
          fatty acid biosynthetic process
          fatty acid beta-oxidation
          unsaturated fatty acid biosynthetic process
          peroxisome organization
          organophosphate ester transport
          peroxisomal long-chain fatty acid import
          fatty-acyl-CoA transport
          peroxisomal membrane transport
          nucleobase-containing compound transport
          regulation of fatty acid metabolic process
          fatty acid elongation
          regulation of fatty acid beta-oxidation
          positive regulation of fatty acid beta-oxidation
          alpha-linolenic acid metabolic process
          very long-chain fatty-acyl-CoA catabolic process
          long-chain fatty acid catabolic process
          long-chain fatty acid biosynthetic process
          very long-chain fatty acid catabolic process
          amide transport
          myelin maintenance
          linoleic acid metabolic process
          regulation of mitochondrial depolarization
          transmembrane transport
          fatty acid homeostasis
          sterol homeostasis
          negative regulation of cytokine production involved in inflammatory response
          regulation of cellular response to oxidative stress
          fatty acid derivative biosynthetic process
          negative regulation of reactive oxygen species biosynthetic process
          neuron projection maintenance
          positive regulation of unsaturated fatty acid biosynthetic process
          nucleotide binding
          long-chain fatty acid transporter activity
          protein binding
          ATP binding
          organophosphate ester transmembrane transporter activity
          ABC-type fatty-acyl-CoA transporter activity
          nucleobase-containing compound transmembrane transporter activity
          hydrolase activity
          ATPase activity
          enzyme binding
          ATPase activity, coupled to transmembrane movement of substances
          identical protein binding
          protein homodimerization activity
          amide transmembrane transporter activity
          ADP binding
          acyl-CoA hydrolase activity
          very long chain acyl-CoA hydrolase activity
          ABC-type transporter activity
          sulfur compound transmembrane transporter activity

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