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  2. AKR1C4 - aldo-keto reductase family 1 member C4 Gene

AKR1C4 - aldo-keto reductase family 1 member C4 Gene

中文名称:醛酮还原酶家族 1 成员 C4

种属: Homo sapiens

同用名: C11; CDR; DD4; CHDR; DD-4; HAKRA; 3-alpha-HSD

基因 ID: 1109 | 基因类型: protein coding

关于 AKR1C4

Cytogenetic location: 10p15.1 Genomic coordinates (GRCh38): 10:5,196,837-5,218,949 (from NCBI)

This gene has 3 transcripts (splice variants), 484 orthologues, 16 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 165.8).

功能概要

该基因编码醛/酮还原酶超家族的一个成员,该家族由 40 多种已知的酶和蛋白质组成。这些酶利用 NADH 和/或 NADPH 作为辅助因子,催化醛和酮转化为其相应的醇。这些酶显示重叠但不同的底物特异性。这种酶催化十氯酮 (一种有毒的有机氯农药) 在肝脏中生物还原为十氯酮醇。该基因与其他三个基因成员具有高度序列同一性,并与染色体 10p15-p14 上的这三个基因聚集在一起。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known Enzymes and proteins. These Enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The Enzymes display overlapping but distinct substrate specificity. This Enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]

AKR1C4 基因产物(1)

mRNA Protein Name
NM_001818.5 NP_001809.4 aldo-keto reductase family 1 member C4

AKR1C4 蛋白结构

Aldo_ket_red

Aldo_ket_red: Aldo/keto reductase family (19 - 300)

  • 0
  • 100
  • 200
  • 300
  • 323 a.a.
蛋白主名 其他名称

aldo-keto reductase family 1 member C4

3-alpha-HSD1

重组 AKR1C4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7470 AKR1C4 Protein, Human (His) P17516 (M1-Y323) ≥95%

关联疾病

疾病名称 别名
46,Xy Sex Reversal 8

SRXY8

Male Pseudohermaphroditism Due To Deficiency Of Testicular 17,20-Desmolase

Tdd

46,Xy Disorder Of Sex Development Due To Testicular 17,20-Desmolase Deficiency

46xy Sex Reversal 8

46xy Sex Reversal 8, Modifier Of

Male Pseudohermaphroditism: Deficiency Of Testicular 17,20-Desmolase

46,Xy Sex Reversal

Swyer Syndrome

Pure Gonadal Dysgenesis 46,Xy

Gonadal Dysgenesis, Xy Female Type

Gonadal Dysgenesis, 46,Xy

46,Xy Cgd

46,Xy Complete Gonadal Dysgenesis

46,Xy Pure Gonadal Dysgenesis

46 Xy Gonadal Dysgenesis

46, Xy Cgd

46, Xy Complete Gonadal Dysgenesis

46, Xy Pure Gonadal Dysgenesis

Xy Pure Gonadal Dysgenesis

Female With 46,Xy Karyotype

Xy Females

Cloacal Exstrophy

Oeis Complex

Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome

Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Compl

Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Complex

Cloacal Exstrophy Sequence

Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect

Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects

Omphalocele Exstrophy Imperforate Anus

Bile Acid Synthesis Defect, Congenital, 3

Congenital Bile Acid Synthesis Defect 3

CBAS3

Oxysterol 7-Alpha-Hydroxylase Deficiency

Congenital Bile Acid Synthesis Defect Type 3

Basd3

Bile Acid Synthesis Defect, Congenital, Type 3

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

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism

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
Others AKR1C4 NCBI