1. Gene
  2. PAFAH2 - platelet activating factor acetylhydrolase 2 Gene

PAFAH2 - platelet activating factor acetylhydrolase 2 Gene

中文名称:血小板活化因子乙酰水解酶 2

种属: Homo sapiens

同用名: HSD-PLA2

基因 ID: 5051 | 基因类型: protein coding

关于 PAFAH2

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:25,959,767-25,998,063 (from NCBI)

This gene has 7 transcripts (splice variants), 131 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 8.5), colon (RPKM 7.9) and 25 other tissues.

功能概要

该基因编码血小板活化因子乙酰水解酶亚型 2,这是一种单亚基胞内酶,可催化去除血小板活化因子 SN-2 位置的乙酰基 (鉴定为 1-O-alkyl-2-acetyl-sn -甘油基-3-磷酸胆碱) 。然而,这种脂肪酶表现出比简单的血小板活化因子更广泛的底物特异性。存在另外两种细胞内血小板活化因子乙酰水解酶同种型,它们都是多亚基酶。此外,该酶还有一种单亚基血清亚型。[RefSeq 提供,2008 年 7 月]

This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular Enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this Lipase exhibits a broader substrate specificity than simply platelet activating factor. Two Other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit Enzymes. Additionally, there is a single-subunit serum isoform of this Enzyme. [provided by RefSeq, Jul 2008]

PAFAH2 基因产物(1)

mRNA Protein Name
NM_000437.4 NP_000428.2 platelet-activating factor acetylhydrolase 2, cytoplasmic

PAFAH2 蛋白结构

PAF-AH_p_II

PAF-AH_p_II: Platelet-activating factor acetylhydrolase, isoform II (1 - 381)

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  • 392 a.a.
蛋白主名 其他名称

platelet-activating factor acetylhydrolase 2, cytoplasmic

PAF:lysophospholipid transacetylase

关联疾病

疾病名称 别名
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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
Bos taurus PAFAH2 VGNC VGNC:32552
Canis familiaris PAFAH2 VGNC VGNC:44241
Rattus norvegicus PAFAH2 RGD RGD:631399
Mus musculus PAFAH2 MGD MGI:2140321
Felis catus PAFAH2 VGNC VGNC:68686
Macaca mulatta PAFAH2 VGNC VGNC:75749