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Gene : BBOX1 Homo sapiens

Name  ? gamma-butyrobetaine hydroxylase 1 Cytological Location  11p14.2
Brief Description  gamma-butyrobetaine hydroxylase 1
Description  This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008]
  • synonyms:
  • HGNC:964,
  • gamma-BBH,
  • OTTHUMG00000166121,
  • BBOX,
  • BBH,
  • uc057zxq.1,
  • G-BBH,
  • AF082868,
  • butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1,
  • NM_003986,
  • BBOX1,
  • BBOX,
  • BBH,
  • gamma-BBH,
  • G-BBH
  • identifiers:
  • 8424,
  • ENSG00000129151,
  • BBOX1

Genome feature

Region: gene ? Length: 87105  
Location: 11:27040705-27127809 Cyto location: 11p14.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

0 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

3753 SN Ps

5 Cross References

17 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results