PAFAH1B1

Chr 17

platelet activating factor acetylhydrolase 1b regulatory subunit 1

Also known as: LIS1, LIS2, MDCR, MDS, NudF, PAFAH

NCBI Gene: 5048ENSG00000007168UniProt: P43034

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLissencephaly 1
UniProtSubcortical band heterotopia
UniProtMiller-Dieker lissencephaly syndrome

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
22
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.11
LOEUF· LoF intol.
LOF
Mechanism· G2P
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GeneReview available — PAFAH1B1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.11LOEUF
pLI 1.000
Z-score 4.89
OE 0.00 (0.00–0.11)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
3.53Z-score
OE missense 0.35 (0.29–0.42)
81 obs / 232.3 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.11)
0≤0.351.4
Missense OE?0.35 (0.29–0.42)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 0 / 27.9Missense obs/exp: 81 / 232.3Syn Z: 0.91

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PAFAH1B1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients