TKT gene

transketolase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]

From UniProt:

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.

From NCBI Gene:

  • Short stature, developmental delay, and congenital heart defects

From UniProt:

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. [MIM:617044]

Cytogenetic Location: 3p21.1, which is the short (p) arm of chromosome 3 at position 21.1

Molecular Location: base pairs 53,224,707 to 53,256,114 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p21.1, which is the short (p) arm of chromosome 3 at position 21.1
  • HEL-S-48
  • HEL107
  • SDDHD
  • TK
  • TKT1