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Gene : ALMS1 Homo sapiens

Name  ? ALMS1 centrosome and basal body associated protein Cytological Location  2p13.1
Brief Description  ALMS1, centrosome and basal body associated protein
description  This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]
  • synonyms:
  • OTTHUMG00000152812,
  • Alstrom syndrome 1,
  • Alstrom syndrome protein 1,
  • NM_015120,
  • uc032nrd.1,
  • AB002326,
  • ALSS,
  • ALMS1,
  • HGNC:428,
  • KIAA0328
  • identifiers:
  • 7840,
  • ENSG00000116127,
  • ALMS1

Genome feature

Region: gene ? Length: 224162  
Location: 2:73385758-73609919 Cyto location: 2p13.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 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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Interactions

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Expression

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

Gene Ontology

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Other

2011 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results