HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IMPG1
interphotoreceptor matrix proteoglycan 1
Chromosome 6 Β· 6q14.1
NCBI Gene: 3617Ensembl: ENSG00000112706.12HGNC: HGNC:6055UniProt: A0A087WYL3
22PubMed Papers
22Diseases
0Drugs
68Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
gel phase of interstitial matrixheparin bindinghyaluronic acid bindingchondroitin sulfate bindingvitelliform macular dystrophy 4benign concentric annular macular dystrophyretinitis pigmentosaRetinal dystrophy
✦AI Summary

IMPG1 encodes a chondroitin sulfate-, heparin-, and hyaluronic acid-binding proteoglycan that serves as a structural component of the interphotoreceptor matrix (IPM), the extracellular space between photoreceptors and retinal pigment epithelium 1. IMPG1 is expressed specifically by rod and cone photoreceptor cells 1 and plays a critical role in IPM organization, photoreceptor development, and nutrient trafficking 2. The protein undergoes SEA domain-dependent proteolysis during maturation, which is essential for normal retinal function 3. IMPG1 functions in a codependent relationship with IMPG2; when IMPG2 is absent, IMPG1 mislocalizes to the subretinal space, causing visual deficits 2. Blocking IMPG1 in developing retinal tissue impairs photoreceptor morphogenesis and IPM formation 4. Mutations in IMPG1 cause two distinct inherited retinal dystrophies: vitelliform macular dystrophy (VMD4) with late-onset moderate vision loss and normal RPE reflectivity on imaging 56, and retinitis pigmentosa (RP91) 6. These disease-associated mutations typically inhibit SEA domain proteolysis, disrupting IMPG1 maturation and localization 3. IMPG1 mutations account for approximately 1.45% of inherited retinal dystrophy cases 6.

Sources cited
1
IMPG1 and IMPG2 are major IPM proteoglycans with distinct localizations; IMPG1 mislocalizes when IMPG2 is absent, causing visual deficits and subretinal lesions
PMID: 32265257
2
IMPG1 undergoes SEA domain-dependent proteolysis as part of maturation; disease-associated mutations in the SEA domain inhibit this proteolysis and affect IMPG1-IMPG2 trafficking
PMID: 36109576
3
IMPG1 is essential for photoreceptor development, outer segment formation, and IPM development; blocking IMPG1 disrupts these processes
PMID: 29777959
4
IMPG1 is a chondroitin sulfate proteoglycan expressed specifically by rod and cone photoreceptor cells in the IPM
PMID: 10601738
5
IMPG1 mutations cause vitelliform macular dystrophy with late onset, moderate visual impairment, drusen-like lesions, and preserved RPE reflectivity
PMID: 25085631
6
IMPG1 and IMPG2 mutations cause retinitis pigmentosa and vitelliform macular dystrophy, with 1.45% prevalence in inherited retinal dystrophy cohorts
PMID: 39858590
Disease Associationsβ“˜22
vitelliform macular dystrophy 4Open Targets
0.71Strong
benign concentric annular macular dystrophyOpen Targets
0.67Moderate
retinitis pigmentosaOpen Targets
0.60Moderate
Retinal dystrophyOpen Targets
0.52Moderate
vitelliform macular dystrophyOpen Targets
0.37Weak
adult-onset foveomacular vitelliform dystrophyOpen Targets
0.37Weak
IMPG1-related dominant retinopathyOpen Targets
0.37Weak
IMPG1-related recessive retinopathyOpen Targets
0.37Weak
isolated macular dystrophyOpen Targets
0.34Weak
vitelliform macular dystrophy 2Open Targets
0.34Weak
atrial fibrillationOpen Targets
0.30Weak
head and neck malignant neoplasiaOpen Targets
0.29Weak
gastric cancerOpen Targets
0.27Weak
Macular dystrophyOpen Targets
0.26Weak
complicationOpen Targets
0.26Weak
medical procedureOpen Targets
0.26Weak
esophageal diseaseOpen Targets
0.26Weak
frozen shoulderOpen Targets
0.19Weak
rhabdomyolysisOpen Targets
0.19Weak
cervical carcinomaOpen Targets
0.19Weak
Macular dystrophy, vitelliform, 4UniProt
Retinitis pigmentosa 91UniProt
Pathogenic Variants68
NM_001563.4(IMPG1):c.151dup (p.Met51fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 51
NM_001563.4(IMPG1):c.378G>A (p.Trp126Ter)Pathogenic
not provided|Isolated macular dystrophy|Retinal dystrophy
β˜…β˜…β˜†β˜†2024β†’ Residue 126
NM_001563.4(IMPG1):c.175C>T (p.Arg59Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 59
NM_001563.4(IMPG1):c.1824+1G>APathogenic
Vitelliform macular dystrophy 4|Benign concentric annular macular dystrophy|not provided|Retinitis pigmentosa
β˜…β˜…β˜†β˜†2023
NM_001563.4(IMPG1):c.1428del (p.Pro477fs)Pathogenic
not provided|Vitelliform macular dystrophy 4;Benign concentric annular macular dystrophy
β˜…β˜…β˜†β˜†2023β†’ Residue 477
NM_001563.4(IMPG1):c.1291+1G>TPathogenic
not provided|Retinitis pigmentosa
β˜…β˜…β˜†β˜†2020
NM_001563.4(IMPG1):c.640_643dup (p.Asn215fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 215
NM_001563.4(IMPG1):c.667-84_706delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001563.4(IMPG1):c.847dup (p.Ile283fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 283
NM_001563.4(IMPG1):c.1840C>T (p.Arg614Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 614
NM_001563.4(IMPG1):c.913dup (p.Thr305fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 305
NM_001563.4(IMPG1):c.1212+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001563.4(IMPG1):c.498-1G>CLikely pathogenic
Retinal dystrophy|Incidental Discovery
β˜…β˜†β˜†β˜†2025
NM_001563.4(IMPG1):c.562+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter)Pathogenic
Vitelliform macular dystrophy 4|not provided|IMPG1-related disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 507
NM_001563.4(IMPG1):c.391C>T (p.Gln131Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 131
NM_001563.4(IMPG1):c.498-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001563.4(IMPG1):c.421G>T (p.Gly141Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 141
NM_001563.4(IMPG1):c.2021_2024dup (p.Tyr675Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 675
NM_001563.4(IMPG1):c.1567_1574delinsTTTTGTTGACATTTGTTGACATTTGTTGACATGAAATGTTTTGTTGTCAGGAGA (p.Asp523_Ser525delinsPheCysTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 523
View on ClinVar β†—
Related Genes
NYXShared pathway100%RAXShared pathway100%AIPL1Shared pathway100%PRR4Shared pathway100%ROM1Shared pathway100%PRPH2Protein interaction88%
Tissue Expression6 tissues
Lung
100%
Liver
57%
Heart
48%
Brain
44%
Ovary
36%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
IMPG1NYXRAXAIPL1PRR4ROM1PRPH2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q17R60
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.22LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.98 [0.79–1.22]
RankingsWhere IMPG1 stands among ~20K protein-coding genes
  • #13,678of 20,598
    Most Researched22
  • #1,076of 5,498
    Most Pathogenic Variants68 Β· top quartile
  • #12,802of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedIMPG1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Proteoglycan IMPG2 Shapes the Interphotoreceptor Matrix and Modulates Vision.
PMID: 32265257
J Neurosci Β· 2020
1.00
2
Interphotoreceptor matrix proteoglycans IMPG1 and IMPG2 proteolyze in the SEA domain and reveal localization mutual dependency.
PMID: 36109576
Sci Rep Β· 2022
0.90
3
Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix.
PMID: 29777959
Acta Biomater Β· 2018
0.80
4
Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies.
PMID: 9691169
Cytogenet Cell Genet Β· 1998
0.70
5
Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).
PMID: 9719369
J Med Genet Β· 1998
0.60