Transketolase

Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate.

Short stature, developmental delay, and congenital heart defects

SDDHD

An autosomal recessive syndrome characterized by short stature, developmental delay, intellectual disability and congenital heart defects including ventricular septal defect, atrial septal defect and patent foramen ovale. Cataract and uveitis are observed in some patients.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the transketolase family.

Transketolase, TK, TKT

• entrezGene:7086
• omim:606781
• swissprot:P29401

Proteins

Metabolism

67878Da