Gene
STAR
steroidogenic acute regulatory protein
- HGNC 11359(opens in a new tab)
- Ensembl gene ENSG00000147465(opens in a new tab)
- NCBI Gene 6770(opens in a new tab)
Summary
- Cytogenetic location
- 8p11.23
- Coordinates
- Chromosome 8: 38,142,700–38,150,952 (GRCh38)
- Exons
- 7 exons across 8.3 kb
- Protein
- 285 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- STARD1
- MANE Select transcript
- ENST00000276449.9NM_000349.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Congenital Adrenal Hyperplasia
- Autosomal recessive
Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Glucocorticoid replacement (hydrocortisone in children, prednisone/dexamethasone in adults); mineralocorticoid replacement for salt-wasting (fludrocortisone); adrenalectomy for severe medically refractory hyperandrogenism; stress dosing protocols
Female Infertility
Diminished or absent ability of a female to achieve conception.
- 5 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How STAR is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.6 kb of the gene's 8.3 kb; 858 of those bases code for the protein.
How a genome test reads STAR
87
positions in STAR where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 8.3 kb of STAR, introns included, not only the 2.6 kb of exons.
Traits linked to STAR
The Human Phenotype Ontology lists these as features of the rare conditions STAR can cause. Each trait's page lists the other genes linked to it.
Abnormality of the endocrine system
- Adrenal insufficiency
- Low blood cortisol level
- Abnormal circulating adrenocorticotropin concentration
- Decreased circulating dehydroepiandrosterone concentration
- Impaired cortisol response to insulin stimulation test
- Early onset of puberty
- Low blood aldosterone level
- Underactive thyroid gland from birth
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). STAR gene: steroidogenic acute regulatory protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/star
Dante Labs. STAR gene: steroidogenic acute regulatory protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/star
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