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Gene

PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

Summary

Cytogenetic location
17p13.3
Coordinates
Chromosome 17: 2,593,654–2,685,615 (GRCh38)
Exons
11 exons across 92 kb
Protein
410 amino acids
Also known as
LIS1, PAFAH, NudF
Previous symbols
MDCR, MDS
MANE Select transcript
ENST00000397195.10NM_000430.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

No Genome Test report reads PAFAH1B1 yet. The test sequences your whole genome, so your data includes it all the same.

How PAFAH1B1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where PAFAH1B1 sits. PAFAH1B1 and 12 genes near it on chromosome 17, from 2,139,635 to 3,139,634.Chromosome 1717p13.3p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.32.2 Mb2.4 Mb2.6 Mb2.8 Mb3 MbSMG6: 2,059,839–2,303,934, reverse strandSMG6SRR: 2,303,383–2,326,656, forward strandSRRTSR1: 2,322,376–2,337,965, reverse strandTSR1SGSM2: 2,337,488–2,381,058, forward strandSGSM2MNT: 2,384,073–2,401,142, reverse strandMNTMETTL16: 2,405,562–2,511,904, reverse strandMETTL16PAFAH1B1: 2,593,654–2,685,615, forward strandPAFAH1B1CLUH: 2,689,386–2,712,663, reverse strandCLUHCCDC92B: 2,720,801–2,749,923, reverse strandCCDC92BRAP1GAP2: 2,755,629–3,037,741, forward strandRAP1GAP2OR1D5: 3,062,669–3,063,607, reverse strandOR1D5OR1D2: 3,088,484–3,104,422, reverse strandOR1D2OR1G1: 3,126,610–3,127,551, reverse strandOR1G1Diagram of PAFAH1B1: 11 exons on the forward strand of chromosome 17Exon 2: 2 known disease-causing sitesExon 3: 6 known disease-causing sitesExon 4: 8 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 6: 14 known disease-causing sitesExon 7: 9 known disease-causing sitesExon 8: 14 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 10: 12 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 1: 2,593,654–2,594,006, 353 basesExon 2: 2,638,099–2,638,320, 222 basesExon 3: 2,665,372–2,665,456, 85 basesExon 4: 2,666,016–2,666,090, 75 basesExon 5: 2,666,992–2,667,198, 207 basesExon 6: 2,670,163–2,670,331, 169 basesExon 7: 2,672,655–2,672,757, 103 basesExon 8: 2,674,060–2,674,288, 229 basesExon 9: 2,676,505–2,676,606, 102 basesExon 10: 2,680,164–2,680,320, 157 basesExon 11: 2,681,729–2,685,615, 3,887 bases1246810115′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.6 kb of the gene's 92 kb; 1,233 of those bases code for the protein.

How a genome test reads PAFAH1B1

101

positions in PAFAH1B1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 92 kb of PAFAH1B1, introns included, not only the 5.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PAFAH1B1 gene: platelet activating factor acetylhydrolase 1b regulatory subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pafah1b1

Vancouver

Dante Labs. PAFAH1B1 gene: platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pafah1b1

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