Gene: PSPH

Alternate names for this Gene: PSP|PSPHD

Gene Summary: The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome.

Gene is located in Chromosome: 7

Location in Chromosome : 7p11.2

Description of this Gene: phosphoserine phosphatase

Type of Gene: protein-coding

Gene: CCT6A

Alternate names for this Gene: CCT-zeta|CCT-zeta-1|CCT6|Cctz|HTR3|MoDP-2|TCP-1-zeta|TCP20|TCPZ|TTCP20

Gene Summary: The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, several pseudogenes of this gene have been located.

Gene is located in Chromosome: 7

Location in Chromosome : 7p11.2

Description of this Gene: chaperonin containing TCP1 subunit 6A

Type of Gene: protein-coding