Alternative titles; symbols
HGNC Approved Gene Symbol: A1BG
Cytogenetic location: 19q13.43 Genomic coordinates (GRCh38): 19:58,345,183-58,353,492 (from NCBI)
Ishioka et al. (1986) determined the complete amino acid sequence of the plasma protein alpha-1B-glycoprotein. The protein contains 474 amino acids and has 5 intrachain disulfide bonds. Sequence homology to immunoglobulins was recognized. Alpha-1B-glycoprotein is present in normal adult plasma at an average concentration of 22 mg/dl.
Gahne et al. (1987) noted that in pigs the homologous A1B locus is linked to malignant hyperthermia (145600). Several other linkages in pigs and in horses suggest that human chromosomes 19, 6, and 1 are 'candidate chromosomes' for bearing the human A1B gene.
Eiberg et al. (1989) found linkage between A1BG and Lutheran blood group (111150); lod = 3.06 at theta = 0.05 in males, and lod = 1.42 at theta = 0.10 in females. They suggested that the most likely order of genes on chromosome 19 is C3--SE--LU--A1BG.
Gahne et al. (1987) observed genetic polymorphism of A1B using one-dimensional horizontal polyacrylamide gel electrophoresis followed by Western blotting with specific antiserum. Three different phenotypes, designated 1-1, 1-2, and 2-2, were observed. Family data supported the hypothesis that the three phenotypes are determined by 2 codominant alleles at an autosomal locus.
Juneja et al. (1988) found a higher degree of A1B polymorphism in American blacks than in Caucasian populations. They described new alleles.
Eiberg, H., Bisgaard, M. L., Mohr, J. Linkage between alpha-1-B-glycoprotein (A1BG) and Lutheran (LU) red blood group system: assignment to chromosome 19: new genetic variants of A1BG. Clin. Genet. 36: 415-418, 1989. [PubMed: 2591067]
Gahne, B., Juneja, R. K., Stratil, A. Genetic polymorphism of human plasma alpha-1-B-glycoprotein: phenotyping by immunoblotting or by a simple method of 2-D electrophoresis. Hum. Genet. 76: 111-115, 1987. [PubMed: 3610142] [Full Text: https://doi.org/10.1007/BF00284904]
Ishioka, N., Takahashi, N., Putnam, F. W. Amino acid sequence of human plasma alpha-1B-glycoprotein: homology to the immunoglobulin supergene family. Proc. Nat. Acad. Sci. 83: 2363-2367, 1986. [PubMed: 3458201] [Full Text: https://doi.org/10.1073/pnas.83.8.2363]
Juneja, R. K., Weitkamp, L. R., Stratil, A., Gahne, B., Guttormsen, S. A. Further studies of the plasma alpha-1-B-glycoprotein polymorphism: two new alleles and allele frequencies in Caucasians and in American blacks. Hum. Hered. 38: 267-272, 1988. [PubMed: 3235092] [Full Text: https://doi.org/10.1159/000153797]