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C4BPA

Synonyms
C4BP, PRP
External resources
Summary
This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
4
Likely pathogenic
0
VUS
2,293
Likely benign
524
Benign
0

Patient phenotypes

Proportions of phenotypes among 4 patients carring pathogenic or likely pathogenic variants on C4BPA gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the nervous system
50%
Abnormality of blood and blood-forming tissues
25%
Abnormality of head or neck
25%
Abnormality of limbs
25%
Abnormality of the cardiovascular system
25%
Abnormality of the ear
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the respiratory system
25%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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