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Gene : ARL13B Homo sapiens

Name  ? ADP ribosylation factor like GTPase 13B Cytological Location  3q11.1-q11.2
Brief Description  ADP ribosylation factor like GTPase 13B
Description  This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
  • synonyms:
  • ADP-ribosylation factor-like 2-like 1,
  • ARL13B,
  • uc003drd.4,
  • ADP-ribosylation factor like GTPase 13B,
  • NM_182896,
  • ARL2L1,
  • ARL2L1,
  • JBTS8,
  • OTTHUMG00000159012,
  • JBTS8,
  • HGNC:25419,
  • AL713789,
  • DKFZp761H079
  • identifiers:
  • 200894,
  • ENSG00000169379,
  • ARL13B

Genome feature

Region: gene ? Length: 75532  
Location: 3:93980147-94055678 Cyto location: 3q11.1-q11.2

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1 Diseases

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34 SNPs

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results