PICALM phosphatidylinositol binding clathrin assembly protein

Gene ID: 8301, updated on 10-Oct-2024
Gene type: protein coding
Also known as: LAP; CALM; CLTH

Summary

This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Acute myeloid leukemia MedGen: C0023467OMIM: 601626GeneReviews: CEBPA-Associated Familial Acute Myeloid Leukemia (AML), ETV6 Thrombocytopenia and Predisposition to Leukemia, RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies, DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia	See labs
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. GeneReviews: Not available
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. GeneReviews: Not available
Genome-wide association study of Alzheimer's disease. GeneReviews: Not available
Genome-wide association study of Tourette's syndrome. GeneReviews: Not available
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. GeneReviews: Not available
The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. GeneReviews: Not available

Genomic context

Location:: 11q14.2

Sequence:: Chromosome: 11; NC_000011.10 (85957175..86069860, complement)

Total number of exons:: 23

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PICALM variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PICALM database
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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