BCAM basal cell adhesion molecule (Lutheran blood group)
Gene ID: 4059, updated on 5-Mar-2024Gene type: protein coding
Also known as: AU; LU; B-CAM; CD239; MSK19; F8/G253
- See all available tests in GTR for this gene
- Go to complete Gene record for BCAM
- Go to Variation Viewer for BCAM variants
Summary
This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
BLOOD GROUP--LUTHERAN SYSTEM | not available |
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. GeneReviews: Not available | |
LuLu phenotype | See labs |
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. GeneReviews: Not available |
Genomic context
- Location:
- 19q13.32
- Sequence:
- Chromosome: 19; NC_000019.10 (44809059..44821421)
- Total number of exons:
- 14
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for BCAM variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BCAM database
- Blood Group Antigen Gene Mutation Database (BGMUT)
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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