GeneBe

ELOVL1

protein-coding

ELOVL fatty acid elongase 1, the group of MicroRNA protein coding host genes

Gene summary

Enables fatty acid elongase activity. Involved in fatty acid biosynthetic process and sphingolipid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_022821.4

Inheritance

AD, AR

ClinVar variants

P:2U:41B:24

Top phenotype

Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies

gnomAD constraint

pLI —, LoF o/e 0.18

Max pathogenic AF

—

Genomic locus

chr1:43,363,398-43,368,074

External References & Databases

Ensembl (ENSG00000066322)NCBI Gene (64834)OMIM (611813)HGNC:14418GenCCUniProt (Q9BW60)AlphaFoldClinVar (ELOVL1)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~4.7 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial featuresLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0032798

Submitter: Ambry Genetics

ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial featuresLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0032798

Submitter: Ambry Genetics

ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial featuresLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0032798

Submitter: PanelApp Australia

ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial featuresSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0032798

Submitter: Labcorp Genetics (formerly Invitae)

ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial featuresSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0032798

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic faciesAD

Manifestation: Craniofacial; Dermatologic; Neurologic; Ophthalmologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 29496980; 30487246Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ELOVL1 variants in ClinVar

5 Conditions Cataloged
not providedTotal: 57
not specifiedTotal: 22
ELOVL1-related disorderTotal: 6
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial featuresTotal: 4
Optic atrophyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022821.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
19
clinvar
2
clinvar
 22
missense
1
clinvar
35
clinvar
2
clinvar
1
clinvar
 39
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
4
clinvar
 5
Total114121367
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 82 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_022821.4RefSeqNP_073732.17MANE Select
ENST00000372458.8EnsemblENSP00000361536.37MANE Select
NM_001256399.2RefSeqNP_001243328.17Standard
NM_001256401.2RefSeqNP_001243330.16Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
elovl1aDanio rerio

Structure: whole organism

Quality: increased curvature

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Fatty acid elongation - Homo sapiens (human)
  • stearate biosynthesis
  • Metabolism of lipids
  • Fatty acyl-CoA biosynthesis
  • alpha-linolenic acid (ALA) metabolism

Biological Process

  • unsaturated fatty acid biosynthetic process
  • fatty acid elongation, saturated fatty acid
  • sphingolipid biosynthetic process
  • fatty acid elongation, monounsaturated fatty acid
  • fatty acid elongation, polyunsaturated fatty acid

Molecular Function

  • protein binding
  • fatty acid elongase activity
  • 3-oxo-arachidoyl-CoA synthase activity
  • 3-oxo-cerotoyl-CoA synthase activity
  • 3-oxo-lignoceronyl-CoA synthase activity

Cellular Component

  • endoplasmic reticulum
  • endoplasmic reticulum membrane
  • membrane
  • integral component of endoplasmic reticulum membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000372458
Coding exons
7
Length
4629
Individuals with no LoFs
125741
Homozygous LoFs
0
Heterozygous LoFs
3
Defined
125744
p
0.0000119
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.81941580.5950.000008821831
Missense (PolyPhen)3679.2080.4545950
Synonymous-1.727457.41.290.00000318529
Loss of Function3.12316.80.1798.14e-7175

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)0.0000180.000018rare
South Asian0.0000330.000033rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that exhibits activity toward saturated C18 to C26 acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis. Indirectly inhibits RPE65 via production of VLCFAs. {ECO:0000255|HAMAP-Rule:MF_03201, ECO:0000269|PubMed:20166112, ECO:0000269|PubMed:20937905}.;

Recessive Scores

pRec
0.102

Intolerance Scores

LoFtool
0.414
RVIS EVS
0.04
RVIS percentile EVS
56.64

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.815

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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