" /> CLTCL1 wt Allele - CISMeF





Preferred Label : CLTCL1 wt Allele;

NCIt synonyms : CLH22; Clathrin, Heavy Polypeptide-Like 1 Gene; CLTD; CLTCL; CHC; Clathrin Heavy Chain Like 1 wt Allele; CHC22; Clathrin, Heavy Chain-Like 1 Gene; Clathrin, Heavy Polypeptide D Gene; FLJ36032;

NCIt 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.;

NCIt note : 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); A translocation t(21;22)(p12;q11) causes a truncated CLTCL1 transcript to be produced and is associated with DiGeorge syndrome. (OMIM);

GenBank Accession Number : NM_001835;

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23/05/2024


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