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Gene : ACBD5 Homo sapiens

Name  ? acyl-CoA binding domain containing 5 Cytological Location  10p12.1
Brief Description  acyl-CoA binding domain containing 5
description  This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
  • synonyms:
  • AF505653,
  • DKFZp434A2417,
  • HGNC:23338,
  • acyl-Coenzyme A binding domain containing 5,
  • NM_145698,
  • ACBD5,
  • KIAA1996,
  • OTTHUMG00000017854,
  • uc001ito.4
  • identifiers:
  • 91452,
  • ENSG00000107897,
  • ACBD5

Genome feature

Region: gene ? Length: 60705  
Location: 10:27182838-27243542 reverse strand Cyto location: 10p12.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

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Gene Ontology

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Other

2011 SN Ps

5 Cross References

15 Data Sets

13 Homologues

0 Located Features

90 Rna Seq Results