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Gene : GLMN Homo sapiens

Name  ? glomulin, FKBP associated protein Cytological Location  1p22.1
Brief Description  glomulin, FKBP associated protein
description  This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
  • synonyms:
  • GLML,
  • FKBPAP,
  • FAP48,
  • FAP68,
  • GVM,
  • venous malformation with glomus cells,
  • U73704,
  • OTTHUMG00000010283,
  • uc001dor.4,
  • GVM,
  • FAP48,
  • GLML,
  • HGNC:14373,
  • NM_007070,
  • FKBPAP,
  • VMGLOM,
  • FAP,
  • VMGLOM,
  • GLMN
  • identifiers:
  • 11146,
  • ENSG00000174842,
  • GLMN

Genome feature

Region: gene ? Length: 196151  
Location: 1:92245786-92441936 reverse strand Cyto location: 1p22.1


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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

1 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

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Homology

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Expression

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Other

39 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results