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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5048

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

PAFAH1B1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83428	LIS1 Antibody (YA3173)	WB, FC	Human, Mouse, Rat
HY-P83428A	LIS1 Antibody (YA3173)(PBS only)	WB, FC	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09967	PAFAH1B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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