CCT6B
Chaperonin Containing TCP1 Subunit 6B
Gene Information Card
| Symbol | CCT6B |
|---|---|
| Full Name | Chaperonin Containing TCP1 Subunit 6B |
| Gene Type | Protein coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 10693 ncbi.nlm.nih.gov/gene/10693 |
| Ensembl ID | ENSG00000182149 |
| UniProt ID | Q9Y5S2 |
| OMIM ID | 610730 |
| HGNC ID | 1617 |
| Aliases | CCT6B, CCT-zeta-2, TCP-1-zeta-2, Cctz2 |
Description
CCT6B encodes a subunit of the chaperonin containing TCP1 complex (CCT), a molecular chaperone that assists in the folding of actin, tubulin, and other cytosolic proteins. The CCT complex is composed of eight subunits (CCT1-8), and CCT6B is one of two zeta subunits (zeta-2). This gene is expressed in various tissues and is involved in protein folding and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Mutations in CCT6B disrupt protein folding in photoreceptor cells, leading to retinal degeneration. | ClinVar, OMIM |
| Spermatogenic failure | CCT6B variants impair chaperone function in testis, affecting sperm development. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Retina | 8.2 | Medium |
| Brain | 6.1 | Low |
| Heart | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | High expression |
| HeLa | 7.3 | Moderate expression |
| K562 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | Rare | Loss of function; associated with retinitis pigmentosa |
| c.1435G>A (p.Gly479Arg) | Missense | Rare | Loss of function; associated with spermatogenic failure |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in CCT6B reduce chaperone activity, impairing protein folding.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Some mutations may exert dominant-negative effects by disrupting CCT complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • Protein folding | • Chaperone cofactor-dependent protein refolding |
| • Cytoskeleton organization | • ATP binding |
| • Unfolded protein binding |
Pathways
• Chaperonin-mediated protein folding
• CCT complex pathway
Protein Summary
CCT6B is a 60 kDa subunit of the CCT chaperonin complex, which forms a double-ring structure that encapsulates and folds target proteins such as actin and tubulin. The protein contains an ATP-binding domain and is essential for proper cytoskeletal assembly and cellular function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCT6B Knockout HEK293 Cell Line | EDJ-KQ7134 | Human | 10693 | Details Get a Quote |
| CCT6B Knockout HeLa Cell Line | EDJ-KQ55465 | Human | 10693 | Details Get a Quote |
| CCT6B Knockout A-549 Cell Line | EDJ-KQ63950 | Human | 10693 | Details Get a Quote |
| CCT6B Knockout HCT 116 Cell Line | EDJ-KQ72407 | Human | 10693 | Details Get a Quote |
