TKTL1 - transketolase like 1 Gene

Homo sapiens

Also known as TKR; TKT2

Gene ID: 8277 | Gene type: protein coding

About TKTL1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,295,795-154,330,350 (from NCBI)

This gene has 8 transcripts (splice variants), 97 orthologues and 4 paralogues. Restricted expression toward testis (RPKM 88.4).

Summary

The protein encoded by this gene is a Transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

TKTL1 Products(3)

mRNA	Protein	Name
NM_001145933.2	NP_001139405.1	transketolase-like protein 1 isoform b
NM_001145934.2	NP_001139406.1	transketolase-like protein 1 isoform c
NM_012253.4	NP_036385.3	transketolase-like protein 1 isoform a

TKTL1 Protein Structure

Transketolase_N

Transket_pyr

Transketolase_C

0
100
200
300
400
500
596 a.a.

Protein Preferred Names

Protein Names

transketolase-like protein 1

TK 2

Related Diseases

Diseases

Alias

Wernicke-Korsakoff Syndrome

Korsakoff Syndrome	Transketolase Defect
Korsakoff'S Syndrome	Alcohol-Induced Encephalopathy
Korsakoff'S Psychosis	Korsakov Psychosis
Korsakov'S Psychosis	Alcohol Induced Encephalopathy
Korsakoff Disease	Korsakoff Psychosis

Hypochondroplasia

HCH	Hypochondrodysplasia
Chondrogenesis Imperfecta	Hypochondroplastic Dwarfism
Hypochondroplastic Short Stature

Dry Beriberi

Thiamine Deficiency Disease

Conjunctival Nevus

Nevus Of Conjunctiva

Beriberi

Thiamine Deficiency	Vitamin B1 Deficiency
Aneurin Deficiency	Thiamine Vitamin Deficiency
Beriberi Nos	Beriberi Due To Vitamin B1 Deficiency
Beriberi Due To Thiamine Vitamin Deficiency	Kakkè

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14560	TKTL1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TKTL1	RGD	RGD:1593490
Macaca mulatta	TKTL1	VGNC	VGNC:78363
Canis familiaris	TKTL1	VGNC	VGNC:47392
Bos taurus	TKTL1	VGNC	VGNC:35885
Felis catus	TKTL1	VGNC	VGNC:66204
Mus musculus	TKTL1	MGD	MGI:1933244

Name
Email *

	Sorry, but the email address you supplied was invalid.