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Gene : ANKH Homo sapiens

Name  ? ANKH inorganic pyrophosphate transport regulator Cytological Location  5p15.2
Brief Description  ANKH inorganic pyrophosphate transport regulator
description  This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
  • synonyms:
  • uc003jfm.5,
  • craniometaphyseal dysplasia, Jackson type (dominant),
  • OTTHUMG00000090539,
  • CMDJ,
  • CMDJ,
  • SLC62A1,
  • ankylosis, progressive homolog (mouse),
  • ANK,
  • HANK,
  • ankylosis, progressive (mouse) homolog,
  • ANK,
  • CPPDD,
  • CPPDD,
  • MANK,
  • SLC62A1,
  • CCAL2,
  • HANK,
  • CCAL2,
  • ANKH,
  • AF274753,
  • NM_054027,
  • HGNC:15492
  • identifiers:
  • 56172,
  • ENSG00000154122,
  • ANKH

Genome feature

Region: gene ? Length: 166986  
Location: 5:14704800-14871785 reverse strand Cyto location: 5p15.2


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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

2 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

291 SN Ps

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results