View gene PAFAH1B1

General information
Gene symbol PAFAH1B1
Gene name platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Chromosome 17
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_009799.1
Transcript reference NM_000430.3
Associated with diseases ID, LIS-1, Miller-Dieker lissencephaly syndrome
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Date created May 03, 2013

Links to other resources
HGNC 8574
Entrez Gene 5048
PubMed articles PAFAH1B1
OMIM - Gene 601545
OMIM - Diseases LIS-1 (lissencephaly, type 1 (LIS-1))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015599 17 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) NM_000430.3 NP_000421.1 0