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Symbol report for PAFAH1B1

HGNC data for PAFAH1B1

Approved symbol
PAFAH1B1
Approved name

platelet activating factor acetylhydrolase 1b regulatory subunit 1

Locus type
gene with protein product
HGNC ID
HGNC:8574
Symbol status
Approved
Previous symbols
MDCR
MDS
Previous names
platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)
Miller-Dieker syndrome chromosome region
platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa
platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Alias symbols
LIS1
PAFAH
NudF
Alias names
lissencephaly-1
Chromosomal location
17p13.3
Gene groups
Gene resources for PAFAH1B1
Ensembl
ENSG00000007168 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
5048 Curated
UCSC
uc002fuw.5
Alliance of Genome Resources
HGNC:8574
Nucleotide resources for PAFAH1B1
MANE Select
NM_000430.4
ENST00000397195.10
INSDC
L25107 Curated
ENAGenBankDDBJ
RefSeq
NM_000430 Curated
NCBI sequence viewer
CCDS
CCDS32528 Curated
Protein resources for PAFAH1B1
UniProt/Swiss-Prot
P43034
InterProPDBeReactome
AlphaFold
AF-P43034-F1
Orthologs from selected species for PAFAH1B1
Bos taurus
PAFAH1B1 VGNC:50241 VGNC
Canis familiaris
PAFAH1B1 VGNC:44239 VGNC
Equus caballus
PAFAH1B1 VGNC:21132 VGNC
Felis catus
PAFAH1B1 VGNC:68684 VGNC
Macaca mulatta
PAFAH1B1 VGNC:75747 VGNC
Mus musculus
Pafah1b1 MGI:109520 Curated
Pan troglodytes
PAFAH1B1 VGNC:9502 VGNC
Rattus norvegicus
Pafah1b1 RGD:620331
Sus scrofa
PAFAH1B1 VGNC:99026 VGNC
Clinical resources for PAFAH1B1
OMIM
601545
GenCC
HGNC:8574
MedlinePlus
Search via PAFAH1B1
DECIPHER
Search via PAFAH1B1
ClinGen
Search via HGNC:8574
Genetic Testing Registry
Search via NCBI Gene ID 5048
ClinVar
Search via NCBI Gene ID 5048
dbVar
Search via NCBI Gene ID 5048
Orphanet
124062
Other resources for PAFAH1B1
AmiGO
Search via P43034
QuickGO
Search via P43034
BioGPS
Search via NCBI Gene ID 5048
GeneCards
Search via HGNC:8574
Monarch
Search via HGNC:8574
WikiGenes
Search via NCBI Gene ID 5048
References for PAFAH1B1