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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.
GORAB
golgin, RAB6 interacting
Chromosome 1 Β· 1q24.2
NCBI Gene: 92344Ensembl: ENSG00000120370.14HGNC: HGNC:25676UniProt: A0A8I5KW31
44PubMed Papers
21Diseases
0Drugs
48Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Golgi apparatustrans-Golgi networkprotein N-linked glycosylationprotein bindinggeroderma osteodysplasticagenetic disorderandrogenetic alopeciaskeletal dysplasia
✦AI Summary

GORAB is a golgin protein localized to the trans-Golgi network that functions as a critical regulator of vesicular transport and protein glycosylation 1. It interacts with small GTPases RAB6 and ARF5 through its IGRAB domain to facilitate Golgi targeting and membrane association 2. GORAB also associates with vimentin intermediate filaments to provide structural stability to the Golgi complex 3. Beyond Golgi functions, GORAB is required for primary cilium formation and hedgehog signaling during hair follicle morphogenesis 4, and localizes to the centriole cartwheel where it functions in centriole duplication 5. During lung development, GORAB negatively regulates AKT phosphorylation and versican expression to control mesenchymal cell migration and alveolar sac maturation 6. Loss-of-function GORAB mutations cause gerodermia osteodysplastica (GO), a segmental progeroid disorder featuring wrinkled skin, early-onset osteoporosis, and bone fragility 12. GO pathogenesis involves glycosaminoglycan chain shortening and extracellular matrix disorganization, triggering a TGF-Ξ²-Nox4-cellular senescence axis that drives osteoporosis 1. Bone from GO mouse models exhibits decreased mineralization, reduced strength, and increased brittleness resembling skeletal aging 7.

Sources cited
1
GORAB regulates Golgi vesicle transport and protein glycanation; loss causes glycosaminoglycan chain shortening and extracellular matrix disorganization in GO; TGF-Ξ²-Nox4-senescence axis drives osteoporosis phenotype
PMID: 39234801
2
GORAB localizes to trans-Golgi and interacts with RAB6 and ARF5 through IGRAB domain; GO-causing mutations disrupt these interactions and Golgi localization
PMID: 26000619
3
GORAB is required for primary cilium formation and hedgehog signaling in dermal condensate cells during hair follicle morphogenesis
PMID: 26967474
4
GORAB associates with vimentin intermediate filaments and contributes to structural stability of the Golgi complex
PMID: 37732478
5
Drosophila Gorab localizes to centriole cartwheel where it complexes with Sas6 and is required for centriole duplication and ciliary structure
PMID: 29892014
6
GORAB negatively regulates AKT phosphorylation, versican expression, and mesenchymal cell migration during embryonic alveolar sac formation
PMID: 32067289
7
GO mouse model exhibits decreased bone mineralization, cortical thickness, whole-bone strength and stiffness, and increased brittleness
PMID: 29108851
Disease Associationsβ“˜21
geroderma osteodysplasticaOpen Targets
0.80Strong
genetic disorderOpen Targets
0.41Moderate
androgenetic alopeciaOpen Targets
0.39Weak
skeletal dysplasiaOpen Targets
0.37Weak
Progeroid facial appearanceOpen Targets
0.37Weak
Severe short statureOpen Targets
0.37Weak
thrombophiliaOpen Targets
0.37Weak
protozoa infectious diseaseOpen Targets
0.32Weak
atrial fibrillationOpen Targets
0.29Weak
deep vein thrombosisOpen Targets
0.27Weak
ThromboembolismOpen Targets
0.26Weak
blood coagulation diseaseOpen Targets
0.24Weak
alopeciaOpen Targets
0.22Weak
PhlebitisOpen Targets
0.20Weak
adolescent idiopathic scoliosisOpen Targets
0.20Weak
ThrombophlebitisOpen Targets
0.19Weak
Parkinson diseaseOpen Targets
0.18Weak
HepatitisOpen Targets
0.18Weak
familial glucocorticoid deficiencyOpen Targets
0.18Weak
neuroendocrine neoplasmOpen Targets
0.17Weak
Geroderma osteodysplasticumUniProt
Pathogenic Variants48
NM_152281.3(GORAB):c.257del (p.Pro86fs)Pathogenic
not provided|Geroderma osteodysplastica
β˜…β˜…β˜†β˜†2025β†’ Residue 86
NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)Pathogenic
not provided|Inborn genetic diseases|Geroderma osteodysplastica
β˜…β˜…β˜†β˜†2025β†’ Residue 35
NM_152281.3(GORAB):c.784C>T (p.Arg262Ter)Pathogenic
Geroderma osteodysplastica|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 262
NM_152281.3(GORAB):c.420-2A>TPathogenic
not provided
β˜…β˜…β˜†β˜†2024
NM_152281.3(GORAB):c.118C>T (p.Arg40Ter)Pathogenic
Geroderma osteodysplastica|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 40
NM_152281.3(GORAB):c.408_409del (p.Lys137fs)Pathogenic
Geroderma osteodysplastica|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 137
NM_152281.3(GORAB):c.190C>T (p.Gln64Ter)Pathogenic
Geroderma osteodysplastica|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 64
NM_152281.3(GORAB):c.559del (p.Arg187fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 187
NM_152281.3(GORAB):c.-19dupPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_152281.3(GORAB):c.556_557del (p.Lys186fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 186
NM_152281.3(GORAB):c.409A>T (p.Lys137Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 137
NM_152281.3(GORAB):c.367G>T (p.Glu123Ter)Pathogenic
Geroderma osteodysplastica|not provided|GORAB-related disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 123
NM_152281.3(GORAB):c.210del (p.Lys70fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 70
NM_152281.3(GORAB):c.14G>A (p.Trp5Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 5
NM_152281.3(GORAB):c.79C>T (p.Arg27Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 27
NM_152281.3(GORAB):c.679del (p.Ala227fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 227
NM_152281.3(GORAB):c.316C>T (p.Gln106Ter)Pathogenic
Geroderma osteodysplastica
β˜…β˜†β˜†β˜†2024β†’ Residue 106
NM_152281.3(GORAB):c.-23G>APathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_152281.3(GORAB):c.521+2T>GLikely pathogenic
Geroderma osteodysplastica
β˜…β˜†β˜†β˜†2024
NM_152281.3(GORAB):c.62-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
RCHY1Protein interaction99%SCYL1Protein interaction99%RAB6AProtein interaction98%ARF5Protein interaction75%PYCR1Protein interaction74%ATP6V0A2Protein interaction74%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
60%
Ovary
60%
Liver
50%
Lung
38%
Brain
19%
Gene Interaction Network
Click a node to explore
GORABRCHY1SCYL1RAB6AARF5PYCR1ATP6V0A2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5T7V8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.80LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.53 [0.36–0.80]
RankingsWhere GORAB stands among ~20K protein-coding genes
  • #9,593of 20,598
    Most Researched44
  • #1,376of 5,498
    Most Pathogenic Variants48
  • #6,682of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedGORAB
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Targeting TGF-Ξ² signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica.
PMID: 39234801
Aging Cell Β· 2024
1.00
2
Gorab Is Required for Dermal Condensate Cells to Respond to Hedgehog Signals during Hair Follicle Morphogenesis.
PMID: 26967474
J Invest Dermatol Β· 2016
0.90
3
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.
PMID: 26000619
J Invest Dermatol Β· 2015
0.80
4
Targeting Drosophila Sas6 to mitochondria reveals its high affinity for Gorab.
PMID: 36331102
Biol Open Β· 2022
0.70
5
Vimentin intermediate filaments provide structural stability to the mammalian Golgi complex.
PMID: 37732478
J Cell Sci Β· 2023
0.60