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Gene

FA2H

fatty acid 2-hydroxylase

Summary

Cytogenetic location
16q23.1
Coordinates
Chromosome 16: 74,712,969–74,774,820 (GRCh38)
Exons
7 exons across 61.9 kb
Protein
372 amino acids
Also known as
FAAH, FLJ25287
Previous symbols
FAXDC1, SPG35
MANE Select transcript
ENST00000219368.8NM_024306.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    • Hereditary Spastic Paraplegia

      • Hereditary Spastic Paraplegia (All Types)

        One of 66 genes linked to it

        Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.

        • ClinGen rates the link definitive
        • 5 GenCC submitters rate it definitive or strong

    How FA2H is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 16, with a bracket where FA2H sits. FA2H and 13 genes near it on chromosome 16, from 74,243,895 to 75,243,894.Chromosome 1616q23.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.374.4 Mb74.6 Mb74.8 Mb75 Mb75.2 MbPSMD7: 74,296,781–74,306,290, forward strandPSMD7NPIPB15: 74,376,306–74,392,115, forward strandNPIPB15CLEC18B: 74,408,631–74,424,179, reverse strandCLEC18BGLG1: 74,447,427–74,607,144, reverse strandGLG1RFWD3: 74,621,393–74,666,912, reverse strandRFWD3MLKL: 74,671,855–74,701,170, reverse strandMLKLFA2H: 74,712,969–74,774,820, reverse strandFA2HWDR59: 74,862,165–75,000,173, reverse strandWDR59ZNRF1: 74,999,007–75,110,994, forward strandZNRF1LDHD: 75,111,855–75,116,799, reverse strandLDHDZFP1: 75,148,494–75,172,254, forward strandZFP1CTRB2: 75,204,099–75,207,175, reverse strandCTRB2CTRB1: 75,218,981–75,226,338, forward strandCTRB1BCAR1: 75,228,181–75,268,053, reverse strandBCAR1Diagram of FA2H: 7 exons on the reverse strand of chromosome 16Exon 7: 1 known disease-causing siteExon 6: 8 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 15 known disease-causing sitesExon 7: 74,712,969–74,714,269, 1,301 basesExon 6: 74,716,347–74,716,599, 253 basesExon 5: 74,718,988–74,719,160, 173 basesExon 4: 74,726,225–74,726,331, 107 basesExon 3: 74,727,244–74,727,386, 143 basesExon 2: 74,740,023–74,740,115, 93 basesExon 1: 74,774,486–74,774,820, 335 bases76543215′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 2.4 kb of the gene's 61.9 kb; 1,119 of those bases code for the protein.

    How a genome test reads FA2H

    48

    positions in FA2H 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 61.9 kb of FA2H, introns included, not only the 2.4 kb of exons.

    Genes linked to the same conditions

    Traits linked to FA2H

    The Human Phenotype Ontology lists these as features of the rare conditions FA2H can cause. Each trait's page lists the other genes linked to it.

    Abnormality of the nervous system

    Show 32 more traits

    External links

    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.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • 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.). FA2H gene: fatty acid 2-hydroxylase. Retrieved 17 October 2026, from https://dantelabs.com/genes/fa2h

    Vancouver

    Dante Labs. FA2H gene: fatty acid 2-hydroxylase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fa2h

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