PAFAH1B1 - platelet activating factor acetylhydrolase 1b regulatory subunit 1 Gene

Homo sapiens

Also known as MDS; LIS1; LIS2; MDCR; NudF; PAFAH

Gene ID: 5048 | Gene type: protein coding

About PAFAH1B1

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:2,593,183-2,685,615 (from NCBI)

This gene has 30 transcripts (splice variants), 283 orthologues, 26 paralogues and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 59.5), testis (RPKM 32.6) and 25 other tissues.

Summary

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric Enzyme that specifically 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). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this Enzyme is found in serum. [provided by RefSeq, Apr 2009]

PAFAH1B1 Products(1)

mRNA	Protein	Name
NM_000430.4	NP_000421.1	platelet-activating factor acetylhydrolase IB subunit beta

PAFAH1B1 Protein Structure

LisH

WD40

0
100
200
300
410 a.a.

Protein Preferred Names

Protein Names

platelet-activating factor acetylhydrolase IB subunit beta

lissencephaly 1 protein

Related Diseases

Diseases

Alias

Lissencephaly 1

LIS1	Classic Lissencephaly
Ils	Subcortical Laminar Heterotopia
Lissencephaly Due To Lis1 Mutation	Lissencephaly Sequence, Isolated
Lissencephaly, Classic	Pafah1b1-Related Lissencephaly
Classical Lissencephaly	Lissencephaly Type 1
Lissencephaly-1	Subcortical Band Heterotopia
Double Cortex	Lissencephaly Classic
Lissencephaly Sequence Isolated	Isolated Lissencephaly Sequence
Type 1 Lissencephaly	Lissencephaly Syndrome Type 1
SBH	Sclh
Lissencephaly, Type 1	Type I Lissencephaly

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

Band Heterotopia

Subcortical Band Heterotopia	Double Cortex Syndrome
Subcortical Laminar Heterotopia	Double Cortex
Band Heterotopia Of Brain	BH
Heco	Heterotopic Cortex
Familial Band Heterotopia	Dc
Dc Syndrome	Heterotopia, Subcortical Band
Sbh	Sclh
Bhy

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Chromosome 17p13.3, Centromeric, Duplication Syndrome

Chromosome 17p13.3 Duplication Syndrome	17p13.3 Duplication Syndrome
17p13.3 Microduplication Syndrome	Trisomy 17p13.3
Chromosome 17p13.3 Centromeric Duplication Syndrome	Dup(17)(P13.3)

Chromosome 15q11.2 Deletion Syndrome

15q11.2 Microdeletion Syndrome	15q11.2 Bp1-Bp2 Microdeletion Syndrome
Del(15)(Q11.2)	Monosomy 15q11.2
15q11.2 Microdeletion	Chromosome 15q11.2 Deletion
Chromosome 15q11.2 Microdeletion	Chromosome Deletion Syndrome 15q11.2
Microdeletion 15q11.2	Duplication 15q11-Q13 Syndrome

Cerebellar Hypoplasia

Lissencephaly, X-Linked, 1

Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Xlis
Lissencephaly, X-Linked	LISX1
Lissencephaly And Agenesis Of Corpus Callosum	Subcortical Laminal Heterotopia, X-Linked
X-Linked Lissencephaly 1	X-Linked Lissencephaly
Double Cortex	Xlis1
Lissencephaly X-Linked	Lisx
X-Linked Lissencephaly Type 1	Lissencephaly, X-Linked 1
Subcortical Band Heterotopia X-Linked	SBHX
Sclh	Subcortical Laminar Heterotopia
Lissencephaly, X-Linked, Type 1	Subcortical Band Heterotopia

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Lissencephaly 4

LIS4	Lissencephaly 4 With Microcephaly
Microlissencephaly	Lissencephaly, Type 4

Hypomelanosis Of Ito

Incontinentia Pigmenti Achromians	Nevus Of Ito
Ipa	Ito Hypomelanosis
Ito	Pigmentation Disorders
HMI	Incontinentia Pigmenti, Type I, Formerly
Ip1, Formerly	Bloch-Siemans Syndrome
Incontinentia Pigmenti Achromians Syndrome	Ito'S Nevus
Incontinentia Pigmenti Type 1	Nevi Of Ito
Nevus Fuscocaeruleus Acromiodeltoideus	Bloch Sulzberger Syndrome
Skin Pigmentation Disorder

Lissencephaly 10

LIS10

Lissencephaly 7 With Cerebellar Hypoplasia

LIS7	Lissencephaly 7, With Cerebellar Hypoplasia
Lissencephaly, Type 7, With Cerebellar Hypoplasia

Lissencephaly 2

Norman-Roberts Syndrome	Lissencephaly Syndrome, Norman-Roberts Type
LIS2	Lissencephaly With Cerebellar Hypoplasia
Lch	Lissencephaly Syndrome Norman-Roberts Type
Norman Roberts Lissencephaly Syndrome	Lissencephaly 3
Lis3	Microlissencephaly Type A
Norman-Roberts Lissencephaly Syndrome	Lissencephaly, Type 2
Cobblestone Lissencephaly

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Developmental And Epileptic Encephalopathy 76

DEE76	Epileptic Encephalopathy, Early Infantile, 76
Eiee76	Decam
Developmental And Epileptic Encephalopathy, 76	Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, And Abnormal Myelination
Developmental Delay, Epileptic Endephalopathy, Cerebral Atrophy, And Abnormal Myelination	Early Infantile Epileptic Encephalopathy 76

Microlissencephaly

Tubulinopathy

Tubulinopathies

Lissencephaly 3

LIS3	Lissencephaly Due To Tuba1a Mutation
Lissencephaly Type 3	Lissencephaly, Type 3

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Potocki-Lupski Syndrome

PTLS	Chromosome 17p11.2 Duplication Syndrome
17p11.2 Microduplication Syndrome	Duplication 17p11.2 Syndrome
Trisomy 17p11.2	Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))
17p11.2 Duplication Syndrome	Dup(17)(P11.2p11.2)
Pls	Chromosome 17, Trisomy 17p11 2

Lissencephaly, X-Linked, 2

X-Linked Lissencephaly With Abnormal Genitalia	Hydranencephaly With Abnormal Genitalia
Xlag	Xlisg
X-Linked Lissencephaly With Ambiguous Genitalia	LISX2
Lissencephaly, X-Linked 2	X-Linked Lissencephaly 2
X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome	Xlag Syndrome
Lissencephaly, X-Linked, With Ambiguous Genitalia	Xlis2
X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies	X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome
Xlag Syndrome	Lissencephaly X-Linked With Ambiguous Genitalia
Lissencephaly, X-Linked, Type 2	Chromosome Xq26.3 Duplication Syndrome

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Physical Disorder

Physical Illness

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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

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-RS09967	PAFAH1B1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PAFAH1B1	VGNC	VGNC:44239
Rattus norvegicus	PAFAH1B1	RGD	RGD:620331
Mus musculus	PAFAH1B1	MGD	MGI:109520
Macaca mulatta	PAFAH1B1	VGNC	VGNC:75747
Bos taurus	PAFAH1B1	VGNC	VGNC:50241
Felis catus	PAFAH1B1	VGNC	VGNC:68684

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