2. Gene
  3. TKTL1 - transketolase like 1 Gene

TKTL1 - transketolase like 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：转酮酶样 1

种属: Homo sapiens

同用名: TKR; TKT2

基因 ID: 8277 | 基因类型: protein coding

关于 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).

功能概要

由该基因编码的蛋白质是一种转酮醇酶，可作为同源二聚体，催化 7-磷酸景天庚酮糖和 3-磷酸 D-甘油醛转化为 5-磷酸 D-核糖和 5-磷酸 D-木酮糖。该反应将磷酸戊糖途径与糖酵解途径联系起来。该基因的变异可能是 Wernicke-Korsakoff 综合征的原因。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供，2011 年 3 月]

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 基因产物(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 蛋白结构

Transketolase_N

Transketolase_N: Transketolase, thiamine diphosphate binding domain (25 - 84)

Transketolase_N

Transketolase_N: Transketolase, thiamine diphosphate binding domain (88 - 240)

Transket_pyr

Transket_pyr: Transketolase, pyrimidine binding domain (288 - 450)

Transketolase_C

Transketolase_C: Transketolase, C-terminal domain (468 - 586)

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  • 596 a.a.
蛋白主名 其他名称

transketolase-like protein 1

TK 2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14560 TKTL1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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