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GeneE
26 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.
STAR
steroidogenic acute regulatory protein
Chromosome 8 Β· 8p11.23
NCBI Gene: 6770Ensembl: ENSG00000147465.13HGNC: HGNC:11359UniProt: P49675
154PubMed Papers
21Diseases
0Drugs
113Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial outer membraneglucocorticoid biosynthetic processcholesterol bindingprotein bindingcongenital lipoid adrenal hyperplasia due to STAR deficencysyndactyly-telecanthus-anogenital and renal malformations syndromeCytomegalic congenital adrenal hypoplasiaX-linked adrenal hypoplasia congenita
✦AI Summary

STAR (steroidogenic acute regulatory protein) is a mitochondrial protein that plays a crucial role in steroid hormone biosynthesis by mediating cholesterol transport from the outer to the inner mitochondrial membrane, where it serves as substrate for pregnenolone synthesis 1. STAR functions as a sterol transfer protein, with its cholesterol-transferring activity residing in the C-terminal region 1. This regulated transport is essential for initiating all steroid hormone production in steroidogenic tissues including the adrenal cortex and gonads 2. Biallelic STAR mutations cause lipoid congenital adrenal hyperplasia (LCAH), characterized by severe impairment of adrenal and gonadal steroidogenesis 2. Disease pathogenesis follows a two-hit model: first, impaired mitochondrial cholesterol import eliminates substrate for steroid synthesis; second, cytoplasmic lipid accumulation causes adrenal cell death and gland destruction 2. Loss-of-function mutations produce classic LCAH with severe early-onset disease, while partial-activity variants cause non-classic LCAH with milder, later-onset presentation featuring isolated adrenal insufficiency 2. Clinically, STAR deficiency manifests as primary adrenal insufficiency and 46,XY disorders of sex development, with good genotype-phenotype correlation established for described variants 2. STAR knockout animal models phenocopy the human condition, confirming STAR's essential regulatory role in steroid biosynthesis 1.

Sources cited
1
STAR variants cause primary adrenal insufficiency and 46,XY disorder of sex development through impaired cholesterol transport; describes classic vs. non-classic LCAH phenotypes and two-hit disease mechanism
PMID: 38913505
2
STAR mediates cholesterol transfer from outer to inner mitochondrial membrane for pregnenolone synthesis; cholesterol-transferring activity resides in C-terminus; mutations cause congenital lipoid adrenal hyperplasia
PMID: 10856721
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
congenital lipoid adrenal hyperplasia due to STAR deficencyOpen Targets
0.81Strong
syndactyly-telecanthus-anogenital and renal malformations syndromeOpen Targets
0.43Moderate
Cytomegalic congenital adrenal hypoplasiaOpen Targets
0.38Weak
X-linked adrenal hypoplasia congenitaOpen Targets
0.38Weak
alternating hemiplegia of childhoodOpen Targets
0.37Weak
classic congenital lipoid adrenal hyperplasia due to STAR deficencyOpen Targets
0.37Weak
non-classic congenital lipoid adrenal hyperplasia due to STAR deficencyOpen Targets
0.37Weak
benign neoplasm of adrenal glandOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
congenital adrenal hyperplasiaOpen Targets
0.18Weak
breast cancerOpen Targets
0.11Weak
neoplasmOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
polycystic ovary syndromeOpen Targets
0.07Suggestive
Dravet syndromeOpen Targets
0.07Suggestive
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyOpen Targets
0.05Suggestive
breast neoplasmOpen Targets
0.05Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyOpen Targets
0.05Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.05Suggestive
Adrenal hyperplasia 1UniProt
Pathogenic Variants113
NM_000349.3(STAR):c.64+1G>TPathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided|STAR-related disorder
β˜…β˜…β˜†β˜†2026
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 188
NM_000349.3(STAR):c.814C>T (p.Arg272Cys)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 272
NM_000349.3(STAR):c.661_713dup (p.Leu239fs)Pathogenic
not provided|Congenital lipoid adrenal hyperplasia due to STAR deficency
β˜…β˜…β˜†β˜†2026β†’ Residue 239
NM_000349.3(STAR):c.574C>T (p.Arg192Cys)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 192
NM_000349.3(STAR):c.178+1G>CLikely pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β˜…β˜…β˜†β˜†2026
NM_000349.3(STAR):c.298_299del (p.Gln101fs)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 101
NM_000349.3(STAR):c.714del (p.Lys238fs)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 238
NM_000349.3(STAR):c.811del (p.Leu271fs)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 271
NM_000349.3(STAR):c.779T>C (p.Leu260Pro)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 260
NM_000349.3(STAR):c.653C>T (p.Ala218Val)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 218
NM_000349.3(STAR):c.306+1G>ALikely pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided|STAR-related disorder
β˜…β˜…β˜†β˜†2025
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)Pathogenic
not provided|Congenital lipoid adrenal hyperplasia due to STAR deficency
β˜…β˜…β˜†β˜†2025β†’ Residue 221
NM_000349.3(STAR):c.144G>A (p.Trp48Ter)Pathogenic
not provided|Congenital lipoid adrenal hyperplasia due to STAR deficency
β˜…β˜…β˜†β˜†2025β†’ Residue 48
NM_000349.3(STAR):c.37T>C (p.Ser13Pro)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency
β˜…β˜…β˜†β˜†2025β†’ Residue 13
NM_000349.3(STAR):c.201_202del (p.Tyr68fs)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 68
NM_000349.3(STAR):c.772C>T (p.Gln258Ter)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 258
NM_000349.3(STAR):c.505G>A (p.Glu169Lys)Pathogenic
not provided|Congenital lipoid adrenal hyperplasia due to STAR deficency|Syndactyly-telecanthus-anogenital and renal malformations syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 169
NM_000349.3(STAR):c.5_11del (p.Leu2fs)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency
β˜…β˜…β˜†β˜†2025β†’ Residue 2
NM_000349.3(STAR):c.707_708delinsCTT (p.Lys236fs)Pathogenic
not provided|Congenital lipoid adrenal hyperplasia due to STAR deficency
β˜…β˜…β˜†β˜†2025β†’ Residue 236
View on ClinVar β†—
Related Genes
STARD3NLProtein interaction99%HSD3B1Protein interaction98%HSD3B2Protein interaction98%HSD11B2Protein interaction98%HSD17B3Protein interaction98%MC2RProtein interaction98%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
1%
Brain
0%
Liver
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
STARSTARD3NLHSD3B1HSD3B2HSD11B2HSD17B3MC2R
PROTEIN STRUCTURE
Preparing viewer…
PDB6T5H Β· 2.04 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.30LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.97 [0.73–1.30]
RankingsWhere STAR stands among ~20K protein-coding genes
  • #2,944of 20,598
    Most Researched154 Β· top quartile
  • #688of 5,498
    Most Pathogenic Variants113 Β· top quartile
  • #13,649of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedSTAR
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
STAR: ultrafast universal RNA-seq aligner.
PMID: 23104886
Bioinformatics Β· 2013
1.00
2
Chimeric Antigen Receptor T Cells Targeting CD19 and GCC in Metastatic Colorectal Cancer: A Nonrandomized Clinical Trial.
PMID: 39298141
JAMA Oncol Β· 2024
0.90
3
Intestinal neuropod cell GUCY2C regulates visceral pain.
PMID: 36548082
J Clin Invest Β· 2023
0.80
4
A Novel GUCY2C-CD3 T-Cell Engaging Bispecific Construct (PF-07062119) for the Treatment of Gastrointestinal Cancers.
PMID: 31996389
Clin Cancer Res Β· 2020
0.80
5
A novel adoptive synthetic TCR and antigen receptor (STAR) T-Cell therapy for B-Cell acute lymphoblastic leukemia.
PMID: 35491511
Am J Hematol Β· 2022
0.70