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GENE INFORMATION

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Gene name

PAFAH1B3

Synonyms

Description

platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) (HGNC Symbol)

Entrez gene 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 mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

Chromosome

19 (Chromosome progress)

Cytoband

q13.2

Chromosome location (bp)

42801185 - 42806929

Ensembl

ENSG00000079462 (version 69.37)

Entrez gene

5050

UniProt

Q15102

neXtProt

NX_Q15102

Antibodypedia

PAFAH1B3 antibodies
 

PROTEIN VIEW

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PAFAH1B3-201
 
PAFAH1B3-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PAFAH1B3-201 ENSP00000262890
ENST00000262890
Q15102
Show all »
Show » Show » 231 25.7 No 0
PAFAH1B3-202 ENSP00000444935
ENST00000538771
Q15102
Show all »
Show » Show » 231 25.7 No 0