SLC27A4

gene
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Also known as FATP4ACSVL4FATP-4

Summary

SLC27A4 (solute carrier family 27 member 4, HGNC:10998) is a protein-coding gene on chromosome 9q34.11, encoding Long-chain fatty acid transport protein 4 (Q6P1M0). Mediates the levels of long-chain fatty acids (LCFA) in the cell by facilitating their transport across cell membranes.

This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome.

Source: NCBI Gene 10999 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): ichthyosis prematurity syndrome (Definitive, GenCC)
  • GWAS associations: 1
  • Clinical variants (ClinVar): 553 total — 28 pathogenic, 21 likely-pathogenic
  • Phenotypes (HPO): 20
  • Druggable target: yes
  • MANE Select transcript: NM_005094

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:10998
Approved symbolSLC27A4
Namesolute carrier family 27 member 4
Location9q34.11
Locus typegene with protein product
StatusApproved
AliasesFATP4, ACSVL4, FATP-4
Ensembl geneENSG00000167114
Ensembl biotypeprotein_coding
OMIM604194
Entrez10999

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 20 protein_coding

ENST00000300456, ENST00000372870, ENST00000875273, ENST00000875274, ENST00000875275, ENST00000875276, ENST00000875277, ENST00000875278, ENST00000875279, ENST00000875280, ENST00000875281, ENST00000936236, ENST00000936237, ENST00000936238, ENST00000936239, ENST00000963238, ENST00000963239, ENST00000963240, ENST00000963241, ENST00000963242

RefSeq mRNA: 1 — MANE Select: NM_005094 NM_005094

CCDS: CCDS6899

Canonical transcript exons

ENST00000300456 — 13 exons

ExonStartEnd
ENSE00001109910128355053128355190
ENSE00001109931128353415128353541
ENSE00001109932128355650128355796
ENSE00001145261128352638128352747
ENSE00001145268128350484128350575
ENSE00001145277128350312128350381
ENSE00001145282128348545128348703
ENSE00001145289128345155128345549
ENSE00001379016128353025128353234
ENSE00001634746128355398128355562
ENSE00001710189128343127128343293
ENSE00001905619128360334128361470
ENSE00001921123128340527128340838

Expression profiles

Bgee: expression breadth ubiquitous, 219 present calls, max score 96.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.4281 / max 140.8232, expressed in 1766 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
987509.15221738
987523.95901327
987510.3169132

Top tissues by expression

253 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
mucosa of transverse colonUBERON:000499196.48gold quality
lower esophagus mucosaUBERON:003583495.50gold quality
jejunal mucosaUBERON:000039995.00gold quality
duodenumUBERON:000211494.12gold quality
upper arm skinUBERON:000426394.03silver quality
ileal mucosaUBERON:000033193.03gold quality
esophagus mucosaUBERON:000246992.72gold quality
prefrontal cortexUBERON:000045191.43gold quality
right frontal lobeUBERON:000281090.71gold quality
skin of legUBERON:000151190.23gold quality
Brodmann (1909) area 9UBERON:001354090.03gold quality
hypothalamusUBERON:000189889.92gold quality
skin of abdomenUBERON:000141689.74gold quality
frontal cortexUBERON:000187089.46gold quality
left ventricle myocardiumUBERON:000656689.43gold quality
anterior cingulate cortexUBERON:000983589.29gold quality
zone of skinUBERON:000001488.82gold quality
apex of heartUBERON:000209888.80gold quality
neocortexUBERON:000195088.79gold quality
dorsolateral prefrontal cortexUBERON:000983488.76gold quality
oral cavityUBERON:000016788.69gold quality
jejunumUBERON:000211588.51gold quality
cardiac muscle of right atriumUBERON:000337988.48gold quality
pharyngeal mucosaUBERON:000035588.37gold quality
esophagusUBERON:000104388.18gold quality
right lobe of liverUBERON:000111488.15gold quality
substantia nigraUBERON:000203888.14gold quality
C1 segment of cervical spinal cordUBERON:000646988.08gold quality
adult mammalian kidneyUBERON:000008287.81gold quality
small intestineUBERON:000210887.80gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no2.60

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): PPARG

miRNA regulators (miRDB)

70 targeting SLC27A4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3689D100.0066.141181
HSA-MIR-6851-5P100.0065.631294
HSA-MIR-4283100.0066.422097
HSA-MIR-9-5P100.0072.282361
HSA-MIR-513A-5P100.0069.772465
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-3162-3P100.0065.37363
HSA-MIR-34A-5P99.9971.211784
HSA-MIR-449A99.9971.051776
HSA-MIR-453499.9966.581907
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955
HSA-MIR-998599.9872.112939
HSA-MIR-34C-5P99.9770.451577
HSA-MIR-449B-5P99.9770.261580
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-185-3P99.9567.011743
HSA-MIR-808299.9567.271170
HSA-MIR-6768-5P99.9267.361942
HSA-MIR-3065-3P99.8770.251407
HSA-MIR-444799.8567.812900
HSA-MIR-76599.8468.242442
HSA-MIR-11181-3P99.7566.382205
HSA-MIR-120099.7170.421838
HSA-MIR-371499.7170.742671
HSA-MIR-548AU-3P99.7068.221373

Literature-anchored findings (GeneRIF, showing 25)

  • findings propose fatty acid transport protein 4 as a candidate gene for the insulin resistance syndrome (PMID:14715877)
  • intra-pair correlations revealed that FATP4 expression was significantly up-regulated in acquired obesity." (PMID:15168018)
  • Data suggest that endogenous FATP4 does not function to translocate fatty acids across the plasma membrane, but functions more as a very long-chain acyl-CoA synthetase. (PMID:17901542)
  • Mutations in FATP4 gene cause the ichthyosis prematurity syndrome. (PMID:19631310)
  • Mutation in FATP4 in a patient with self-healing congenital verruciform hyperkeratosis.( (PMID:20815031)
  • even though hypoxia regulates the expression of FATP2 and FATP4 in human trophoblasts, mouse Fatp2 and Fatp4 are not essential for intrauterine fetal growth. (PMID:22028793)
  • FATP1 and FATP4 proteins perform different functional roles in handling long chain fatty acids in skeletal muscle (PMID:22235293)
  • FATP4 plays crucial roles in the development and maturation of both sebaceous and meibomian glands, as well as in the formation and composition of sebum (PMID:23271751)
  • FATP4, ichthyin and TGM1 interact in lipid processing essential for maintaining the epidermal barrier function (PMID:23290633)
  • the clinical implications of defects in these transporters and relevant animal models, including the FATP4 animal models and ichthyosis prematurity syndrome, a congenital ichthyosis caused by FATP4 deficiency. [review] (PMID:24120574)
  • the cell surface protein CD36/FAT directly facilitates fatty acid transport across the plasma membrane, whereas the intracellular acyl-CoA synthetases FATP4 and ACSL1 enhance fatty acid uptake indirectly by metabolic trapping (PMID:24503477)
  • We describe two siblings with ichthyosis prematurity syndrome and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. (PMID:24889544)
  • SLC27A4 gene mutation is responsible in the diagnosis of ichthyosis prematurity syndrome in a premature infant. (PMID:26341232)
  • we resequenced the SLC27A3 and SLC27A4 genes using 267 autism spectrum disorders(ASD) patient and 1140 control samples and detected 47 and 30 variants for the SLC27A3 and SLC27A4, revealing that they are highly polymorphic with multiple rare variants. (PMID:26548558)
  • The results have interesting implications that SLC27A4/ATG4B complex might be conducive to the occurrence of autophagy in human cancer cells, which is meaningful investigations toward the aim of developing autophagy-targeting drugs and have significant values in clinical application. (PMID:26662804)
  • no association between placental expression and maternal body mass index (PMID:27016784)
  • expand the mutational repertory of FATP4 with three undescribed pathogenic mutations in two families (PMID:27168232)
  • Case Report: ichthyosis prematurity syndrome caused by novel homozygous mutation in SLC27A4. (PMID:29701233)
  • high SLC27A4 is associated with tumor progression in breast cancer cells. (PMID:30388870)
  • High FATP4 expression was associated with poor prognosis in clear cell renal cell carcinoma. (PMID:31089396)
  • Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65. (PMID:31595490)
  • The positive feedback between ACSL4 expression and O-GlcNAcylation contributes to the growth and survival of hepatocellular carcinoma. (PMID:32357142)
  • Physical Activity During Pregnancy Is Associated with Increased Placental FATP4 Protein Expression. (PMID:32519158)
  • SLC27A4-mediated selective uptake of mono-unsaturated fatty acids promotes ferroptosis defense in hepatocellular carcinoma. (PMID:36924851)
  • PLIN5 interacts with FATP4 at membrane contact sites to promote lipid droplet-to-mitochondria fatty acid transport. (PMID:37290445)

Cross-species orthologs

27 orthologs

OrganismSymbolGene ID
danio_rerioslc27a4ENSDARG00000017047
mus_musculusSlc27a4ENSMUSG00000059316
rattus_norvegicusSlc27a4ENSRNOG00000014369
drosophila_melanogasterbgmFBGN0027348
drosophila_melanogasterpdgyFBGN0027601
drosophila_melanogasterCG8834FBGN0033733
drosophila_melanogasterCG17999FBGN0034552
drosophila_melanogasterCG9993FBGN0034553
drosophila_melanogasterFatp3FBGN0034999
drosophila_melanogasterCG4563FBGN0035006
drosophila_melanogasterCG5568FBGN0035641
drosophila_melanogasterCG18586FBGN0035642
drosophila_melanogasterCG4830FBGN0037996
drosophila_melanogasterAcsx1LFBGN0038730
drosophila_melanogasterAcsx1RFBGN0038731
drosophila_melanogasterAcsx2FBGN0038732
drosophila_melanogasterAcsx3FBGN0038733
drosophila_melanogasterAcsx4FBGN0038734
drosophila_melanogasterFatp2FBGN0265187
drosophila_melanogasterFatp1FBGN0267828
drosophila_melanogasterhllFBGN0286723
caenorhabditis_elegansWBGENE00007082
caenorhabditis_elegansWBGENE00008669
caenorhabditis_elegansWBGENE00009218
caenorhabditis_elegansWBGENE00011173
caenorhabditis_elegansWBGENE00019920
caenorhabditis_elegansWBGENE00022849

Paralogs (12): ACSL4 (ENSG00000068366), SLC27A5 (ENSG00000083807), ACSBG1 (ENSG00000103740), SLC27A6 (ENSG00000113396), ACSL3 (ENSG00000123983), SLC27A1 (ENSG00000130304), ACSBG2 (ENSG00000130377), SLC27A2 (ENSG00000140284), SLC27A3 (ENSG00000143554), ACSL1 (ENSG00000151726), ACSL6 (ENSG00000164398), ACSL5 (ENSG00000197142)

Protein

Protein identifiers

Long-chain fatty acid transport protein 4Q6P1M0 (reviewed: Q6P1M0)

Alternative names: Arachidonate–CoA ligase, Long-chain-fatty-acid–CoA ligase, Solute carrier family 27 member 4, Very long-chain acyl-CoA synthetase 4

All UniProt accessions (1): Q6P1M0

UniProt curated annotations — full annotation on UniProt →

Function. Mediates the levels of long-chain fatty acids (LCFA) in the cell by facilitating their transport across cell membranes. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Also functions as an acyl-CoA ligase catalyzing the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates, which prevents fatty acid efflux from cells and might drive more fatty acid uptake. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Probably involved in fatty acid transport across the blood barrier. Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Expressed at highest levels in brain, testis, colon and kidney. Expressed at medium levels in heart and liver, small intestine and stomach. Expressed at low levels in peripheral leukocytes, bone marrow, skeletal muscle and aorta. Expressed in adipose tissue. Expressed in brain gray matter.

Disease relevance. Ichthyosis prematurity syndrome (IPS) [MIM:608649] A keratinization disorder characterized by complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong non-scaly ichthyosis with atopic manifestations. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. SLC27A4/FATP4-mediated fatty acid uptake is associated to paramaters related to insulin resistance, which is associated with disturbed fatty acid metabolism and homeostasis, such as obesity. SLC27A4/FATP4 expression is positively correlated with acquired obesity.

Similarity. Belongs to the ATP-dependent AMP-binding enzyme family.

Isoforms (2)

UniProt IDNamesCanonical?
Q6P1M0-11yes
Q6P1M0-22

RefSeq proteins (1): NP_005085* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000873AMP-dep_synth/lig_domDomain
IPR020845AMP-binding_CSConserved_site
IPR022272Lipocalin_CSConserved_site
IPR025110AMP-bd_CDomain
IPR042099ANL_N_sfHomologous_superfamily
IPR045851AMP-b_sfHomologous_superfamily

Pfam: PF00501, PF13193

Enzyme classification (BRENDA):

  • EC 6.2.1.3 — long-chain-fatty-acid-CoA ligase (BRENDA: 48 organisms, 205 substrates, 100 inhibitors, 159 Km, 11 kcat entries)

Substrate kinetics (BRENDA)

48 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
ATP0.025–12.2128
COA0.0005–4.721
PALMITATE0.0002–619
OLEATE0.0014–39
ARACHIDONATE0.0065–9.76
STEARATE0.0002–0.126
DECANOATE0.004–0.00834
LAURATE0.0005–0.0024
LINOLEATE0.0022–0.0414
MYRISTATE0.0002–0.00244
OCTANOATE0.0007–0.04084
LAURIC ACID0.0017–0.01633
LINOLENATE0.0016–0.00732
OCTADECANOATE0.061–0.0722
PALMITOLEATE0.0015–0.0022

Catalyzed reactions (Rhea), 11 shown:

  • a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate (RHEA:15421)
  • (5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate (RHEA:19713)
  • hexadecanoate + ATP + CoA = hexadecanoyl-CoA + AMP + diphosphate (RHEA:30751)
  • (9Z)-octadecenoate + ATP + CoA = (9Z)-octadecenoyl-CoA + AMP + diphosphate (RHEA:33607)
  • tetracosanoate + ATP + CoA = tetracosanoyl-CoA + AMP + diphosphate (RHEA:33639)
  • (9Z)-octadecenoate(out) = (9Z)-octadecenoate(in) (RHEA:33655)
  • (E)-hexadec-2-enoate + ATP + CoA = (2E)-hexadecenoyl-CoA + AMP + diphosphate (RHEA:36139)
  • a fatty acid(in) = a fatty acid(out) (RHEA:38879)
  • hexadecanoate(out) = hexadecanoate(in) (RHEA:45256)
  • (9Z,12Z)-octadecadienoate(out) = (9Z,12Z)-octadecadienoate(in) (RHEA:45264)
  • a very long-chain fatty acid + ATP + CoA = a very long-chain fatty acyl-CoA + AMP + diphosphate (RHEA:54536)

UniProt features (14 total): sequence variant 6, transmembrane region 2, sequence conflict 2, splice variant 2, chain 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6P1M0-F190.720.65

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 243–254

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

IDPathway
R-HSA-5619108Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)
R-HSA-804914Transport of fatty acids
R-HSA-1643685Disease
R-HSA-382551Transport of small molecules
R-HSA-425397Transport of vitamins, nucleosides, and related molecules
R-HSA-425407SLC-mediated transmembrane transport
R-HSA-5619102SLC transporter disorders
R-HSA-5619115Disorders of transmembrane transporters

MSigDB gene sets: 230 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_CIRCULATORY_SYSTEM_PROCESS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, GOBP_ORGANIC_ACID_TRANSPORT, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS

GO Biological Process (18): medium-chain fatty acid transport (GO:0001579), long-chain fatty acid metabolic process (GO:0001676), fatty acid metabolic process (GO:0006631), response to nutrient (GO:0007584), fatty acid transport (GO:0015908), long-chain fatty acid transport (GO:0015909), very long-chain fatty acid catabolic process (GO:0042760), positive regulation of apoptotic process (GO:0043065), skin development (GO:0043588), glucose import in response to insulin stimulus (GO:0044381), long-chain fatty acid import into cell (GO:0044539), negative regulation of insulin receptor signaling pathway (GO:0046627), establishment of localization in cell (GO:0051649), transport across blood-brain barrier (GO:0150104), lipid transport across blood-brain barrier (GO:1990379), very long-chain fatty acid metabolic process (GO:0000038), lipid metabolic process (GO:0006629), lipid transport (GO:0006869)

GO Molecular Function (10): nucleotide binding (GO:0000166), long-chain fatty acid-CoA ligase activity (GO:0004467), long-chain fatty acid transmembrane transporter activity (GO:0005324), fatty acid transmembrane transporter activity (GO:0015245), very long-chain fatty acid-CoA ligase activity (GO:0031957), arachidonate-CoA ligase activity (GO:0047676), palmitoyl-CoA ligase activity (GO:0090433), oleoyl-CoA ligase activity (GO:0090434), protein binding (GO:0005515), ligase activity (GO:0016874)

GO Cellular Component (6): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), microvillus (GO:0005902), membrane (GO:0016020), brush border membrane (GO:0031526)

Reactome top-level categories

Rollup of top-6 pathways:

CategoryPathways
SLC transporter disorders1
Transport of vitamins, nucleosides, and related molecules1
SLC-mediated transmembrane transport1
Transport of small molecules1
Disorders of transmembrane transporters1
Disease1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
fatty acid transport3
long-chain fatty acid-CoA ligase activity3
fatty acid metabolic process2
lipid transport2
long-chain fatty acid transport2
fatty acid-CoA ligase activity2
lipid metabolic process1
monocarboxylic acid metabolic process1
response to nutrient levels1
response to chemical1
monocarboxylic acid transport1
very long-chain fatty acid metabolic process1
fatty acid catabolic process1
apoptotic process1
regulation of apoptotic process1
positive regulation of programmed cell death1
animal organ development1
cellular response to insulin stimulus1
D-glucose import across plasma membrane1
import into cell1
lipid import into cell1
insulin receptor signaling pathway1
negative regulation of signal transduction1
regulation of insulin receptor signaling pathway1
negative regulation of cellular response to insulin stimulus1
establishment of localization1
cellular localization1
vascular transport1
transport across blood-brain barrier1
primary metabolic process1
transport1
lipid localization1
nucleoside phosphate binding1
heterocyclic compound binding1
long-chain fatty acid metabolic process1
fatty acid transmembrane transporter activity1
monocarboxylic acid transmembrane transporter activity1
lipid transmembrane transporter activity1
binding1
catalytic activity1

Protein interactions and networks

STRING

1784 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SLC27A4AASDHQ4L235843
SLC27A4ACSL1P33121791
SLC27A4CD36P16671742
SLC27A4SCARB1Q8WTV0719
SLC27A4SCARB2Q14108718
SLC27A4PPARAQ07869701
SLC27A4COASYQ13057695
SLC27A4NIPAL4Q0D2K0681
SLC27A4PNPLA1Q8N8W4663
SLC27A4PPARGP37231651
SLC27A4LIPEQ05469632
SLC27A4GOT2P00505632
SLC27A4PPARDQ03181605
SLC27A4CAV1Q03135589
SLC27A4CYP4F22Q6NT55580
SLC27A4PLIN1O60240580

IntAct

96 interactions, top by confidence:

ABTypeScore
BECN1ZWINTpsi-mi:“MI:0914”(association)0.750
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
CFTRESYT2psi-mi:“MI:0914”(association)0.710
PCNAPOM121Cpsi-mi:“MI:0914”(association)0.550
PEX19FAM20Bpsi-mi:“MI:0914”(association)0.530
SLC39A4TMEM120Bpsi-mi:“MI:0914”(association)0.530
CD63LGALS8psi-mi:“MI:0914”(association)0.530
GPN3POLR3Apsi-mi:“MI:0914”(association)0.530
OGFOD3CLGNpsi-mi:“MI:0914”(association)0.530
ARMC6SLC27A2psi-mi:“MI:0914”(association)0.530
PBXIP1KCNN4psi-mi:“MI:0914”(association)0.530
PEX19MYO1Dpsi-mi:“MI:0914”(association)0.530
pipB2SCDpsi-mi:“MI:0914”(association)0.460
vpuSCAMP3psi-mi:“MI:0914”(association)0.460
SMUG1SLC27A4psi-mi:“MI:0915”(physical association)0.400
SLC27A4EPS8psi-mi:“MI:0915”(physical association)0.370
OTUB1psi-mi:“MI:0914”(association)0.350
OTUB1EPM2Apsi-mi:“MI:0914”(association)0.350
Tpx2NFKBIEpsi-mi:“MI:0914”(association)0.350
Dennd6aIFT88psi-mi:“MI:0914”(association)0.350
Strn3STK24psi-mi:“MI:0914”(association)0.350
Sod1ZC3H18psi-mi:“MI:0914”(association)0.350
ESYT2psi-mi:“MI:0914”(association)0.350
PGRMC1psi-mi:“MI:0914”(association)0.350
HAX1psi-mi:“MI:0914”(association)0.350

BioGRID (319): SLC27A4 (Affinity Capture-RNA), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-RNA), SLC27A4 (Affinity Capture-MS)

ESM2 similar proteins: A2AI05, D3ZDK7, E1BNQ4, O55240, O70249, P21139, P24298, P25409, P50336, P51175, P56602, P97849, Q03426, Q1JPJ0, Q27979, Q2KJF7, Q3T0A0, Q3ZKN0, Q498R1, Q4JIJ2, Q5E9M9, Q5E9T8, Q5R7A2, Q5RK23, Q60714, Q60HD5, Q6AYG0, Q6NRG5, Q6P1M0, Q6P3E7, Q6PCB7, Q6PFP6, Q7TSA0, Q8BNV1, Q8BZG5, Q8C1A3, Q8CHP8, Q8IXI1, Q8JZN7, Q8QZR5

Diamond homologs: A0A0A2J5U8, A1U2S9, B2KWI3, C1AA44, J5JLF2, K0E2F3, O07610, O53521, O68040, P13129, P16929, P27095, P38135, P63521, P63522, P69451, P69452, P94547, P9WQ44, P9WQ45, Q07VK4, Q0AFF1, Q0K844, Q0P4F7, Q15YI8, Q17QJ1, Q26304, Q336M7, Q42524, Q42982, Q499N5, Q4R3Y4, Q4WR83, Q54P78, Q5RDY4, Q5SIW6, Q6BS00, Q6MNF1, Q6P1M0, Q72J95

SIGNOR signaling

1 interactions.

AEffectBMechanism
SLC27A4“up-regulates quantity”“Fatty acid”relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

553 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic28
Likely pathogenic21
Uncertain significance130
Likely benign320
Benign17

Top pathogenic / likely-pathogenic (30)

Variant IDHGVSClassification
1171020NM_005094.4(SLC27A4):c.1208G>A (p.Cys403Tyr)Pathogenic
1171021NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His)Pathogenic
1171022NM_005094.4(SLC27A4):c.1322dup (p.Gly442fs)Pathogenic
1171023NM_005094.4(SLC27A4):c.988-19A>GPathogenic
1686197NM_005094.4(SLC27A4):c.1065del (p.Arg356fs)Pathogenic
2014020NM_005094.4(SLC27A4):c.878-1G>APathogenic
225105NM_005094.4(SLC27A4):c.1774G>A (p.Gly592Arg)Pathogenic
2425294NC_000009.11:g.(?131107414)(131112874_?)delPathogenic
2704558NM_005094.4(SLC27A4):c.1461_1462del (p.Thr487_Gly488insTer)Pathogenic
2704779NM_005094.4(SLC27A4):c.1369del (p.Leu457fs)Pathogenic
2735354NM_005094.4(SLC27A4):c.1A>G (p.Met1Val)Pathogenic
2753014NM_005094.4(SLC27A4):c.1394del (p.Asn465fs)Pathogenic
2766751NM_005094.4(SLC27A4):c.1167C>A (p.Cys389Ter)Pathogenic
2773196NM_005094.4(SLC27A4):c.1060C>T (p.Gln354Ter)Pathogenic
2795966NM_005094.4(SLC27A4):c.28del (p.Val10fs)Pathogenic
2796897NM_005094.4(SLC27A4):c.1318C>T (p.Gln440Ter)Pathogenic
2822452NM_005094.4(SLC27A4):c.839del (p.Asp280fs)Pathogenic
2866939NM_005094.4(SLC27A4):c.863del (p.Leu288fs)Pathogenic
2878187NM_005094.4(SLC27A4):c.1711A>T (p.Lys571Ter)Pathogenic
3245333NC_000009.11:g.(?131115674)(131115840_?)delPathogenic
3245334NC_000009.11:g.(?131105412)(131107848_?)delPathogenic
3245335NC_000009.11:g.(?131108613)(131112753_?)delPathogenic
3254621NM_005094.4(SLC27A4):c.871_877+19delPathogenic
3616805NM_005094.4(SLC27A4):c.1104G>A (p.Trp368Ter)Pathogenic
3657765NM_005094.4(SLC27A4):c.916_919del (p.Met306fs)Pathogenic
5744NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr)Pathogenic
5747NM_005094.4(SLC27A4):c.988-2A>GPathogenic
872094NM_005094.4(SLC27A4):c.1211_1215del (p.Gly404fs)Pathogenic
1474709NM_005094.4(SLC27A4):c.715+1G>TLikely pathogenic
1696265NM_005094.4(SLC27A4):c.-6-2A>GLikely pathogenic

SpliceAI

1919 predictions. Top by Δscore:

VariantEffectΔscore
9:128340834:GCCGG:Gdonor_gain1.0000
9:128340836:CGGG:Cdonor_loss1.0000
9:128340837:GG:Gdonor_gain1.0000
9:128340838:GG:Gdonor_gain1.0000
9:128340838:GGT:Gdonor_loss1.0000
9:128340839:G:GGdonor_gain1.0000
9:128343121:CCGCA:Cacceptor_loss1.0000
9:128343123:GCAG:Gacceptor_loss1.0000
9:128343124:CA:Cacceptor_loss1.0000
9:128343125:A:AGacceptor_gain1.0000
9:128343125:AGGC:Aacceptor_loss1.0000
9:128343126:G:GGacceptor_gain1.0000
9:128343126:GGCC:Gacceptor_gain1.0000
9:128343126:GGCCA:Gacceptor_gain1.0000
9:128343289:ATCTT:Adonor_gain1.0000
9:128343290:TCTT:Tdonor_gain1.0000
9:128343292:TT:Tdonor_gain1.0000
9:128343294:G:GGdonor_gain1.0000
9:128343295:T:Adonor_loss1.0000
9:128343296:GAG:Gdonor_loss1.0000
9:128345149:A:AGacceptor_gain1.0000
9:128345150:C:Gacceptor_gain1.0000
9:128345151:ACAGT:Aacceptor_gain1.0000
9:128345152:C:Gacceptor_gain1.0000
9:128345153:A:AGacceptor_gain1.0000
9:128345153:AGT:Aacceptor_gain1.0000
9:128345154:G:GTacceptor_gain1.0000
9:128345154:GT:Gacceptor_gain1.0000
9:128345154:GTG:Gacceptor_gain1.0000
9:128345154:GTGGC:Gacceptor_gain1.0000

AlphaMissense

4165 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
9:128350339:G:AG248D1.000
9:128355400:G:CD489H1.000
9:128355401:A:GD489G1.000
9:128355401:A:TD489V1.000
9:128355445:C:AR504S1.000
9:128355446:G:CR504P1.000
9:128350338:G:CG248R0.999
9:128350338:G:TG248C0.999
9:128350339:G:TG248V0.999
9:128350363:C:AA256D0.999
9:128350381:G:TR262M0.999
9:128350566:C:GH290D0.999
9:128350568:C:AH290Q0.999
9:128350568:C:GH290Q0.999
9:128352638:G:AG293E0.999
9:128352700:T:CF314L0.999
9:128352702:C:AF314L0.999
9:128352702:C:GF314L0.999
9:128352718:T:AW320R0.999
9:128352718:T:CW320R0.999
9:128352729:T:GC323W0.999
9:128352744:C:GC328W0.999
9:128353059:T:CL341P0.999
9:128353122:G:AG362D0.999
9:128353191:G:AG385E0.999
9:128353197:C:TT387I0.999
9:128353199:G:AE388K0.999
9:128353200:A:TE388V0.999
9:128353207:C:AN390K0.999
9:128353207:C:GN390K0.999

dbSNP variants (sampled 300 via entrez): RS1000465116 (9:128356327 G>A), RS1000798464 (9:128357819 C>A,T), RS1000822737 (9:128345384 A>G), RS1001018277 (9:128345781 C>T), RS1001282272 (9:128345694 A>G), RS1001312303 (9:128351961 C>T), RS1001372129 (9:128361021 A>T), RS1001394841 (9:128340172 C>T), RS1001424550 (9:128360756 A>C,G), RS1001741353 (9:128340059 T>C), RS1001874724 (9:128344407 T>C,G), RS1001875013 (9:128339313 G>A), RS1002197318 (9:128357129 G>A,T), RS1002218318 (9:128356628 AC>A), RS1002223741 (9:128344177 T>G)

Disease associations

OMIM: gene MIM:604194 | disease phenotypes: MIM:608649, MIM:242300

GenCC curated gene-disease

DiseaseClassificationInheritance
ichthyosis prematurity syndromeDefinitiveAutosomal recessive

Mondo (3): ichthyosis prematurity syndrome (MONDO:0012089), lamellar ichthyosis (MONDO:0017778), autosomal recessive congenital ichthyosis (MONDO:0017265)

Orphanet (3): Ichthyosis-prematurity syndrome (Orphanet:88621), Lamellar ichthyosis (Orphanet:313), Autosomal recessive congenital ichthyosis (Orphanet:281097)

HPO phenotypes

20 total (20 of 20 shown, HPO-id order):

HPOTerm
HP:0000007Autosomal recessive inheritance
HP:0000953Hyperpigmentation of the skin
HP:0000989Pruritus
HP:0001019Erythroderma
HP:0001561Polyhydramnios
HP:0001622Premature birth
HP:0001880Increased total eosinophil count
HP:0002099Asthma
HP:0002293Alopecia of scalp
HP:0002643Neonatal respiratory distress
HP:0003193Allergic rhinitis
HP:0007502Follicular hyperkeratosis
HP:0007503Generalized ichthyosis
HP:0007549Desquamation of skin soon after birth
HP:0008064Ichthyosis
HP:0011971Dermatographic urticaria
HP:0012768Neonatal asphyxia
HP:0025092Epidermal acanthosis
HP:0025724Caseous vernix-like desquamation
HP:0500093Food allergy

GWAS associations

1 associations (top):

StudyTraitp-value
GCST005951_65Body mass index5.000000e-09

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004340body mass index

MeSH disease descriptors (1)

DescriptorNameTree numbers
C536271Ichthyosis prematurity syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4327 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — SLC27 family of fatty acid transporters

Most potent curated ligand interactions (1 total), top 1:

LigandActionAffinityParameter
compound 1l [PMID: 16644217]Inhibition7.05pIC50

ChEMBL bioactivities

28 potent at pChembl≥5 of 32 total, top 28 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
7.05IC5090nMCHEMBL209855
6.82IC50150nMCHEMBL211612
6.75IC50180nMCHEMBL426323
6.70IC50200nMCHEMBL211941
6.60IC50250nMCHEMBL211864
6.58IC50260nMCHEMBL211117
6.30IC50500nMCHEMBL437303
6.22IC50600nMCHEMBL212149
6.19IC50640nMCHEMBL378290
6.19IC50650nMCHEMBL211772
6.16IC50700nMCHEMBL212012
6.00IC501000nMCHEMBL211656
6.00IC501000nMCHEMBL211182
6.00IC501000nMCHEMBL208649
5.96IC501100nMCHEMBL212361
5.92IC501200nMCHEMBL436931
5.92IC501200nMCHEMBL211547
5.92IC501200nMCHEMBL209702
5.85IC501400nMCHEMBL209249
5.82IC501500nMCHEMBL211116
5.70IC502000nMCHEMBL380109
5.62IC502400nMCHEMBL380014
5.47IC503400nMCHEMBL377744
5.35IC504500nMCHEMBL209337
5.30IC505000nMCHEMBL211057
5.10IC508000nMCHEMBL210290
5.10IC508000nMCHEMBL439325
5.02IC509500nMCHEMBL377528

PubChem BioAssay actives

28 with measured affinity, of 53 total; 27 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
[(E)-hept-2-enyl] 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic500.0900uM
(4-ethylcyclohexyl) 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic500.1500uM
cyclohex-2-en-1-yl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic500.1800uM
cyclopentyl (4S)-6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic500.2000uM
cyclopentyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic500.2500uM
[(E)-hex-2-enyl] 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic500.2600uM
cyclohexyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic500.5000uM
cyclopentyl (4S)-6-methyl-2-oxo-4-[4-(trifluoromethyl)phenyl]-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic500.6000uM
[(E)-pent-2-enyl] 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic500.6400uM
[(E)-but-2-enyl] 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic500.6500uM
[(Z)-pent-2-enyl] 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic500.7000uM
cyclopentyl 4-(4-bromophenyl)-6-methyl-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic501.0000uM
cyclopentyl 4-(4-chlorophenyl)-6-methyl-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic501.0000uM
cyclopentyl 6-methyl-2-oxo-4-[4-(trifluoromethyl)phenyl]-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic501.0000uM
cyclopentyl 6-methyl-2-oxo-4-[4-(trifluoromethoxy)phenyl]-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic501.1000uM
2-ethylsulfanylethyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic501.2000uM
cycloheptyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic501.2000uM
cyclobutyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic501.2000uM
cyclopentyl 4-(4-cyanophenyl)-6-methyl-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic501.4000uM
prop-2-enyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic501.5000uM
pentyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic502.0000uM
cyclopentyl 6-methyl-4-(4-nitrophenyl)-2-sulfanylidene-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic503.4000uM
cyclopentyl 6-methyl-4-(4-methylphenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic504.5000uM
cyclopentyl 4-(4-methoxyphenyl)-6-methyl-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic505.0000uM
cyclopentyl 4-(4-fluorophenyl)-6-methyl-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic508.0000uM
cyclopentyl 6-methyl-4-(4-methylsulfanylphenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic508.0000uM
ethyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsic509.5000uM

CTD chemical–gene interactions

46 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression6
sodium arseniteaffects cotreatment, decreases expression, increases expression4
bisphenol Aaffects expression, increases expression2
Acetaminophendecreases expression, increases expression2
Air Pollutantsaffects expression, increases abundance, decreases expression2
Estradiolaffects expression, increases expression2
ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoatedecreases expression1
dicrotophosincreases expression1
lead acetateaffects cotreatment, decreases expression1
cobaltous chloridedecreases expression1
linaloolincreases expression, increases reaction1
3,4,5,3’,4’-pentachlorobiphenylaffects expression1
zinc chromatedecreases expression, increases abundance1
potassium chromate(VI)affects cotreatment, decreases expression1
2,2’,3’,4,4’,5-hexachlorobiphenylaffects expression1
epigallocatechin gallateaffects cotreatment, decreases expression1
di-n-butylphosphoric acidaffects expression1
chromium hexavalent iondecreases expression, increases abundance1
perfluorooctane sulfonic aciddecreases expression1
pentabromodiphenyl etherdecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
abrinedecreases expression1
2,2’,4,4’-tetrabromodiphenyl etherdecreases expression1
dorsomorphinaffects cotreatment, increases expression1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidinedecreases expression, increases response to substance1
jinfukangincreases expression1
(+)-JQ1 compoundincreases expression1
Arbutindecreases expression1
Cisplatindecreases expression1
Ivermectindecreases expression1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL870441BindingInhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cellsIdentification and characterization of 4-aryl-3,4-dihydropyrimidin-2(1H)-ones as inhibitors of the fatty acid transporter FATP4. — Bioorg Med Chem Lett

Cellosaurus cell lines

5 cell lines: 4 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_B3HCAbcam HEK293T SLC27A4 KOTransformed cell lineFemale
CVCL_D4KSHCT116-SLC27A4-KO-c1Cancer cell lineMale
CVCL_D4KTHCT116-SLC27A4-KO-c4Cancer cell lineMale
CVCL_TM69HAP1 SLC27A4 (-) 1Cancer cell lineMale
CVCL_TM70HAP1 SLC27A4 (-) 2Cancer cell lineMale

Clinical trials (associated diseases)

6 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00421174PHASE3COMPLETEDEffectiveness of Etanercept for Idiopathic Pneumonia Syndrome Following Stem Cell Transplantation (BMT CTN 0403)
NCT01222000PHASE3UNKNOWNTreatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous
NCT03041038PHASE2COMPLETEDThe Efficacy and Safety of Secukinumab in Patients With Ichthyoses
NCT03738800PHASE2TERMINATEDA Safety, Efficacy and Systemic Exposure Study of CD5789 Cream in Adults and Adolescents With Lamellar Ichthyosis
NCT00001292Not specifiedCOMPLETEDStudy of Scaling Disorders and Other Inherited Skin Diseases
NCT05312073Not specifiedCOMPLETEDStudy of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis