PAFAH1B2 - platelet activating factor acetylhydrolase 1b catalytic subunit 2 Gene

Homo sapiens

Also known as HEL-S-303

Gene ID: 5049 | Gene type: protein coding

About PAFAH1B2

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:117,144,287-117,178,173 (from NCBI)

This gene has 8 transcripts (splice variants), 132 orthologues, 2 paralogues and is associated with 46 phenotypes. Ubiquitous expression in brain (RPKM 16.2), thyroid (RPKM 12.3) and 25 other tissues.

Summary

Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]

PAFAH1B2 Products(5)

mRNA	Protein	Name
NM_001184746.2	NP_001171675.1	platelet-activating factor acetylhydrolase IB subunit alpha2 isoform b
NM_001184747.2	NP_001171676.1	platelet-activating factor acetylhydrolase IB subunit alpha2 isoform c
NM_001184748.2	NP_001171677.1	platelet-activating factor acetylhydrolase IB subunit alpha2 isoform d
NM_001309431.2	NP_001296360.1	platelet-activating factor acetylhydrolase IB subunit alpha2 isoform e
NM_002572.4	NP_002563.1	platelet-activating factor acetylhydrolase IB subunit alpha2 isoform a

PAFAH1B2 Protein Structure

Lipase_GDSL_2

0
100
200
229 a.a.

Protein Preferred Names

Protein Names

platelet-activating factor acetylhydrolase IB subunit alpha2

PAF acetylhydrolase 30 kDa subunit

Recombinant PAFAH1B2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71185	PAFAHB Protein, Human (His)	P68402 (S2-A229)	≥95%

Related Diseases

Diseases

Alias

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome	Mds
MDLS	Miller Dieker Syndrome
Classical Lissencephaly Syndrome	Lissencephaly Due To 17p13.3 Deletion
Monosomy 17p13.3	Telomeric Deletion 17p
Classical Lissencephaly

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-111053	P11		≥98.0%	Unkown
HY-RS09968	PAFAH1B2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PAFAH1B2	RGD	RGD:620332
Macaca mulatta	PAFAH1B2	VGNC	VGNC:75748
Felis catus	PAFAH1B2	VGNC	VGNC:68685
Mus musculus	PAFAH1B2	MGD	MGI:108415
Bos taurus	PAFAH1B2	VGNC	VGNC:32550
Others	PAFAH1B2	NCBI

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