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Gene : CRB1 Homo sapiens

Name  ? crumbs cell polarity complex component 1 Cytological Location  1q31.3
Brief Description  crumbs cell polarity complex component 1
Description  This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]
  • synonyms:
  • RP12,
  • NM_201253,
  • OTTHUMG00000035663,
  • CRB1,
  • RP12,
  • uc001gtz.4,
  • crumbs (Drosophila) homolog 1,
  • crumbs family member 1, photoreceptor morphogenesis associated,
  • crumbs homolog 1 (Drosophila),
  • HGNC:2343,
  • LCA8,
  • LCA8
  • identifiers:
  • 23418,
  • ENSG00000134376,
  • CRB1

Genome feature

Region: gene ? Length: 276952  
Location: 1:197201504-197478455 Cyto location: 1q31.3


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 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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Expression

Gene(s) --> Significant SNPs (GTex data)

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Gene --> GO terms.

 

Other

0 Pathways

683 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results