PAFAH1B3 - platelet activating factor acetylhydrolase 1b catalytic subunit 3 Gene

Homo sapiens

Also known as PAFAHG

Gene ID: 5050 | Gene type: protein coding

About PAFAH1B3

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:42,297,033-42,302,800 (from NCBI)

This gene has 8 transcripts (splice variants), 208 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 7.8), brain (RPKM 7.2) and 25 other tissues.

Summary

This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded Enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

PAFAH1B3 Products(3)

mRNA	Protein	Name
NM_001145939.2	NP_001139411.1	platelet-activating factor acetylhydrolase IB subunit alpha1
NM_001145940.1	NP_001139412.1	platelet-activating factor acetylhydrolase IB subunit alpha1
NM_002573.4	NP_002564.1	platelet-activating factor acetylhydrolase IB subunit alpha1

PAFAH1B3 Protein Structure

Lipase_GDSL_2

0
100
200
231 a.a.

Protein Preferred Names

Protein Names

platelet-activating factor acetylhydrolase IB subunit alpha1

PAF acetylhydrolase 29 kDa subunit

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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09969	PAFAH1B3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PAFAH1B3	RGD	RGD:620333
Canis familiaris	PAFAH1B3	VGNC	VGNC:44240
Felis catus	PAFAH1B3	VGNC	VGNC:103738
Mus musculus	PAFAH1B3	MGD	MGI:108414
Bos taurus	PAFAH1B3	VGNC	VGNC:32551

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