2. Gene
  3. HSD17B6 - hydroxysteroid 17-beta dehydrogenase 6 Gene

HSD17B6 - hydroxysteroid 17-beta dehydrogenase 6 Gene

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

中文名称：羟基类固醇 17-β 脱氢酶 6

种属: Homo sapiens

同用名: HSE; RODH; SDR9C6

基因 ID: 8630 | 基因类型: protein coding

关于 HSD17B6

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:56,763,324-56,787,790 (from NCBI)

This gene has 10 transcripts (splice variants), 92 orthologues and 25 paralogues. Biased expression in liver (RPKM 415.0), lung (RPKM 33.0) and 2 other tissues.

功能概要

该基因编码的蛋白质同时具有氧化还原酶和差向异构酶活性，参与雄激素分解代谢。氧化还原酶活性可将 3 α-二醇转化为二氢睾酮，而差向异构酶活性可将雄酮转化为表雄酮。两种反应都使用 NAD+ 作为首选辅助因子。该基因是视黄醇脱氢酶家族的成员。[RefSeq 提供，2013 年 8 月]

The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]

HSD17B6 基因产物(1)

mRNA Protein Name
NM_003725.4 NP_003716.2 17-beta-hydroxysteroid dehydrogenase type 6 precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity IDA
IDA: 通过直接分析推断
11360992 GOA
enables all-trans-retinol dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
10896656 GOA
enables androstan-3-alpha,17-beta-diol dehydrogenase activity IDA
IDA: 通过直接分析推断
11360992 GOA
enables androsterone dehydrogenase activity IDA
IDA: 通过直接分析推断
10896656 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in brexanolone catabolic process IDA
IDA: 通过直接分析推断
10896656 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

HSD17B6 蛋白结构

adh_short

adh_short: short chain dehydrogenase (31 - 194)

  • 0
  • 100
  • 200
  • 317 a.a.
蛋白主名 其他名称

17-beta-hydroxysteroid dehydrogenase type 6

17-beta-HSD 6

关联疾病

疾病名称 别名
Ovarian Endometrioid Stromal Sarcoma
Ovary Sarcoma

Sarcoma Of Ovary
Cytochrome P450 Oxidoreductase Deficiency

Por Deficiency

Pord

Antley-Bixler Syndrome With Disordered Steroidogenesis

Antley-Bixler Syndrome

Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis

Combined Partial Deficiency Of 17-Hydroxylase And 21-Hydroxylase

Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 And P450c21 Deficiency

Antley-Bixler Syndrome, Autosomal Dominant
Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive

Autosomal Recessive Centronuclear Myopathy

CNM2

Centronuclear Myopathy 2

Ar-Cnm

Myotubular Myopathy, Autosomal Recessive

Autosomal Recessive Myotubular Myopathy

Centronuclear Myopathy Autosomal Recessive

Myopathy, Centronuclear, Type 2
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-RS06398 HSD17B6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus HSD17B6 VGNC VGNC:62849
Macaca mulatta HSD17B6 VGNC VGNC:108350
Rattus norvegicus HSD17B6 RGD RGD:708343
Canis familiaris HSD17B6 VGNC VGNC:41808
Mus musculus HSD17B6 MGD MGI:1351670
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