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CLPB

Synonyms
ANKCLB, HSP78, MEGCANN, MGCA7, SKD3
External resources
Summary
This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
8
Likely pathogenic
14
VUS
4,279
Likely benign
1,860
Benign
1

Patient phenotypes

Proportions of phenotypes among 22 patients carrying pathogenic or likely pathogenic variants on CLPB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
27.3%
Abnormality of the cardiovascular system
22.7%
Abnormality of the musculoskeletal system
22.7%
Growth abnormality
22.7%
Abnormality of the endocrine system
18.2%
Abnormality of head or neck
13.6%
Abnormality of limbs
13.6%
Abnormality of the eye
13.6%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the immune system
9.1%
Abnormality of the integument
9.1%
Abnormality of the ear
4.5%
Neoplasm
4.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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