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          • Home
          • › Search Tool
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          • › Hs04104491_cn
          See other ABCD1 CNV Assays ›
          Gene Symbol
          ABCD1
          Assay Reference Genome
          Location

          Chr.X:153730823 on build GRCh38
          Cytoband
          Assay ID Hs04104491_cn
          Size
          Availability Made To Order
          Catalog # 4400291
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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 2
          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 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 SLC6A8 MAGEA1 HAUS7 ATP2B3 GDI1 ARHGAP4 FLNA OPN1LW FAM223A DNASE1L1 L1CAM-AS1 MIR3202-1 L1CAM DUSP9 G6PD ABCD1 LAGE3 BGN ZNF275 MIR3202-2 OPN1MW2 PLXNB3-AS1 UBL4A MIR12129 PNMA6A SRPK3 PNMA6F EMD PNMA6E PWWP4 LOC105373383 HCFC1-AS1 BCAP31 TAFAZZIN MIR6858 SSR4 TKTL1 RPL10 CTAG1A IKBKG CCNQ PLXNB3 MIR718 SLC10A3 LOC105373378 OPN1MW ATP6AP1-DT NAA10 ATP6AP1 ZFP92 FAM50A TREX2 IDH3G TEX28 FAM3A RENBP PLXNA3 PDZD4 ECMXP TMEM187 IRAK1 OPN1MW3 LOC105373386 HCFC1 PNCK SNORA70 MECP2 AVPR2
          nsv4049537 Chr.X:153704296 - 153765235 on Build GRCh38 Duplication PLXNB3 ABCD1 BCAP31 PLXNB3-AS1
          esv21656 Chr.X:153687433 - 153750282 on Build GRCh38 Gain+Loss ABCD1 SLC6A8 PNCK BCAP31 PLXNB3-AS1

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          More Information


          Set Membership:

          Intragenic 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

          Back To Top

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