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The secreted and GPI-anchored forms of ceruloplasmin generated by alternative splicing. Northern blot analyses of two forms of ceruloplasmin in the organs (lane 1: brain; lane 2: lung; lane 3: liver; lane 4: heart; lane 5: kidney; lane 6: pancreas).

NBIA Types
PKAN = pantothenate kinase-associated neurodegeneration
PLAN = PLA2G6-associated neurodegeneration
MPAN = mitochondrial membrane protein-associated neurodegeneration
BPAN = beta-propeller protein-associated neurodegeneration
Minor forms include those associated with pathogenic variants in ATP13A2, FA2H, FTL, CP, and DCAF17. Frequencies are based on 850 families worldwide collected over 25 years in a repository of neurodegeneration with brain iron accumulation.

CT and T₁- and T₂-weighted MRI of an individual with aceruloplasminemia. CT (A, D), T₂- (B, E), and T₁- (C) weighted axial images of the brain (upper row) and abdomen (bottom row). Brain and abdomen CT show abnormal high-density areas in the basal ganglia and liver. MRI shows signal attenuation of the basal ganglia and thalamus as well as liver.

Pathogenic variants (mutations) characterized in individuals with aceruloplasminemia and their family members. The structure of the human ceruloplasmin gene consists of 20 exons (exon numbering based on Kono & Miyajima [2015]). Alternative splicing at exon 18 (see Figure 3) allows for the secreted type or GPI-linked type of ceruloplasmin isoforms, as indicated. The indicated pathogenic variants are referenced in the text and some are included in the Author's unpublished data. In this figure, the numbering of amino acid residues is based on the mature protein after cleavage of the 19-amino-acid signal peptide.
From Kono S & Miyajima H [2015]
Note: Pathogenic variants and their nomenclature in Figure 3 were provided by the author (H Miyajima) and not reviewed by GeneReviews staff.