About: CLTCL1 wt Allele     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CLTCL1 wt Allele
rdfs:subClassOf
OMIM_Number
  • 601273
GenBank_Accession_Number
  • NM_001835
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CLTCL1 wt Allele
NCI_META_CUI
  • CL429876
EntrezGene_ID
  • 8218
HGNC_ID
  • HGNC:2093
FULL_SYN
  • Clathrin, Heavy Polypeptide D GeneSYNCI
  • CHCSYNCI
  • CLTDSYNCI
  • CLTCL1 wt AllelePTNCI
  • CHC22SYNCI
  • CHC17SYNCI
  • CLH22SYNCI
  • Clathrin, Heavy Chain-Like 1 wt AlleleSYNCI
  • CLTCLSYNCI
  • Clathrin, Heavy Polypeptide-Like 1 GeneSYNCI
  • FLJ36032SYNCI
DEFINITION
  • Human CLTCL1 wild-type allele is located in the vicinity of 22q11.2 and is approximately 112 kb in length. This allele, which encodes clathrin heavy chain 2 protein, plays a role in receptor-mediated endocytosis and cellular vesicle transport. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome.NCIEntrezGene
DesignNote
  • A translocation t(21;22)(p12;q11) causes a truncated CLTCL1 transcript to be produced and is associated with DiGeorge syndrome. (OMIM)
  • A putative translocation t(2;22)(p23;q11.2) of the CLTCL1 gene and the ALK gene may be associated with anaplastic large cell lymphoma. (Atlas of Genetics and Cytogenetics in Oncology and Haematology)
code
  • C97416
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