2. Gene
  3. ABHD12B - abhydrolase domain containing 12B Gene

ABHD12B - abhydrolase domain containing 12B 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 12B

种属: Homo sapiens

同用名: BEM46L3; C14orf29; c14_5314

基因 ID: 145447 | 基因类型: protein coding

关于 ABHD12B

This gene has 9 transcripts (splice variants), 317 orthologues and 7 paralogues. Biased expression in skin (RPKM 6.3), brain (RPKM 0.8) and 2 other tissues.

功能概要

预测启用酰基甘油脂肪酶活性；溶血磷脂酶活性；和棕榈酰- (蛋白质) 水解酶活性。预计参与单酰甘油分解代谢过程和磷脂酰丝氨酸分解代谢过程。预测在内质网膜中有活性。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable acylglycerol Lipase activity; lysophospholipase activity; and palmitoyl-(protein) hydrolase activity. Predicted to be involved in monoacylglycerol catabolic process and phosphatidylserine catabolic process. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

ABHD12B 基因产物(3)

mRNA Protein Name
NM_001206673.2 NP_001193602.1 protein ABHD12B isoform a
NM_181533.4 NP_853511.2 protein ABHD12B isoform b
NM_181814.2 NP_861535.1 protein ABHD12B isoform c

ABHD12B 蛋白结构

Abhydrolase_5

Abhydrolase_5: Alpha/beta hydrolase family (142 - 323)

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

protein ABHD12B

abhydrolase domain-containing protein 12B

关联疾病

疾病名称 别名
Mixed Germ Cell Cancer

Mixed Germ Cell Tumor

Mixed Germ Cell Neoplasm

Mixed Germ Cell Tumour

Mixed Teratoma And Seminoma
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
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-RS00087 ABHD12B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus ABHD12B RGD RGD:1303145
Macaca mulatta ABHD12B VGNC VGNC:69481
Felis catus ABHD12B VGNC VGNC:59477
Bos taurus ABHD12B VGNC VGNC:25491
Canis familiaris ABHD12B VGNC VGNC:37459
Mus musculus ABHD12B MGD MGI:2685650
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