2. Gene
  3. ABHD4 - abhydrolase domain containing 4, N-acyl phospholipase B Gene

ABHD4 - abhydrolase domain containing 4, N-acyl phospholipase B Gene

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

中文名称：含脱氢酶结构域 4, N-酰基磷脂酶 B

种属: Homo sapiens

同用名: ABH4

基因 ID: 63874 | 基因类型: protein coding

关于 ABHD4

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:22,598,300-22,612,963 (from NCBI)

This gene has 10 transcripts (splice variants), 203 orthologues and 12 paralogues. Ubiquitous expression in testis (RPKM 27.9), gall bladder (RPKM 15.6) and 25 other tissues.

功能概要

预测可启用溶血磷脂酸酰基转移酶活性和溶血磷脂酶活性。预计参与 N-酰基磷脂酰乙醇胺代谢过程；脂质体内平衡；和磷脂酸的生物合成过程。预计在 N-酰基乙醇胺代谢过程的上游或内部起作用。预测位于内质网膜。预计在脂滴和线粒体中具有活性。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable lysophosphatidic acid Acyltransferase activity and lysophospholipase activity. Predicted to be involved in N-acylphosphatidylethanolamine metabolic process; lipid homeostasis; and phosphatidic acid biosynthetic process. Predicted to act upstream of or within N-acylethanolamine metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in lipid droplet and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

ABHD4 基因产物(2)

mRNA Protein Name
NM_001392009.1 NP_001378938.1 (Lyso)-N-acylphosphatidylethanolamine lipase isoform b
NM_022060.3 NP_071343.2 (Lyso)-N-acylphosphatidylethanolamine lipase isoform a

ABHD4 蛋白结构

Abhydrolase_6

Abhydrolase_6: Alpha/beta hydrolase family (71 - 332)

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

(Lyso)-N-acylphosphatidylethanolamine lipase

abhydrolase domain-containing protein 4

重组 ABHD4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76133 ABHD4 Protein, Human (sf9, His) Q8TB40 (M1-D342) ≥95%

关联疾病

疾病名称 别名
Chanarin-Dorfman Syndrome

Neutral Lipid Storage Disease

CDS

Neutral Lipid Storage Disease With Ichthyosis

Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation

Triglyceride Storage Disease With Ichthyosis

Nlsdi

Ichthyotic Neutral Lipid Storage Disease

Dorfman-Chanarin Syndrome

Dcs

Chanarin-Dorfman Disease

Ichthyosiform Erythroderma With Leukocyte Vacuolation

Lipidosis With Triglyceride Storage Disease

Disorder Of Cornification 12

Dorfman Chanarin Syndrome

Neutral Lipid Storage Disease With Ichthyotic

Dorfman-Chanarin Disease
Oliver-Mcfarlane Syndrome

Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome

OMCS

Long Eyelashes-Intellectual Disability Syndrome

Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina

Eyelashes, Long, With Mental Retardation

Eyelashes Long Mental Retardation

Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration

Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina

Eyelashes, Long With Intellectual Disability

Oliver Mcfarlane Syndrome

Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature

Trichomegaly, Retina Pigmentary Degeneration, Dwarfism

Trichomegaly Retina Pigmentary Degeneration Dwarfism
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-RS00095 ABHD4 Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris ABHD4 VGNC VGNC:37470
Bos taurus ABHD4 VGNC VGNC:25501
Mus musculus ABHD4 MGD MGI:1915938
Felis catus ABHD4 VGNC VGNC:80774
Rattus norvegicus ABHD4 RGD RGD:1311858
Macaca mulatta ABHD4 VGNC VGNC:84296
Others ABHD4 NCBI
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