1. Gene
  2. TDH - L-threonine dehydrogenase (pseudogene) Gene

TDH - L-threonine dehydrogenase (pseudogene) Gene

中文名称:L-苏氨酸脱氢酶 (假基因)

种属: Homo sapiens

同用名: SDR14E1P

基因 ID: 157739 | 基因类型: pseudo

关于 TDH

Cytogenetic location: 8p23-p22 Genomic coordinates (GRCh38): 8:1-19,200,000

This gene has 5 transcripts (splice variants) and 1 gene allele. Low expression observed in reference dataset.

功能概要

该基因似乎是 L-苏氨酸 3-脱氢酶 (TDH) 的进化假基因。在原核生物和真核生物中,TDH 催化两个 L-苏氨酸降解途径之一的两个步骤中的第一步。然而,在人类中,与 TDH 具有序列相似性的单个基因不能编码功能性 TDH 蛋白;与其他物种的 TDH 蛋白相比,预测的蛋白质缺少大部分 C 末端和部分 NAD+ 结合基序。这表明人类基因因此是假基因。该基因的转录本存在于所有组织中,并且已经描述了可变剪接的转录本。不知道这些转录本是否被翻译,或者可能的蛋白质产物是否提供任何功能作用。[RefSeq 提供,2008 年 7 月]

This gene appears to be an evolving pseudogene of L-threonine 3-dehydrogenase (TDH). In both prokaryotes and eukaryotes, TDH catalyzes the first of two steps in one of two L-threonine degradation pathways. However, in human, the single gene with sequence similarity to TDH is not capable of encoding a functional TDH protein; the predicted protein lacks most of the C-terminus and parts of the NAD+ binding motif when compared to Other species' TDH proteins. This suggests that the human gene is therefore a pseudogene. Transcripts of this gene are found in all tissues and alternatively spliced transcripts have been described. It is not known if these transcripts are translated, or if the possible protein product provides any functional role. [provided by RefSeq, Jul 2008]

关联疾病

疾病名称 别名
Keratolytic Winter Erythema

KWE

Oudtshoorn Skin Disease

Erythrokeratolysis Hiemalis Ichthyosis

Erythrokeratolysis Hiemalis

Oudtshoorn Skin

Oudtshoorn Disease

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus TDH MGD MGI:1926231
Rattus norvegicus TDH RGD RGD:1310214