GenTIGS

Steroidogenic acute regulatory protein (STAR) Associated conditions: 1. Congenital lipoid adrenal hyperplasia due to STAR deficency

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000349.3	NP_000340.2	NC_000008.11	(38142699..38150951, complement)	Reference GRCh38.p14 Primary Assembly	Q6IBK0

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1145 reference articles

Variant Information Steroidogenic acute regulatory protein (STAR) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Steroidogenic acute regulatory protein (STAR)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	25416956 25910212 26871637 32296183 32814053
2	Homo sapiens	TAS	located_in	mitochondrial intermembrane space	Component	-
3	Homo sapiens	IBA	involved_in	steroid biosynthetic process	Process	21873635
4	Homo sapiens	IEA	involved_in	cholesterol metabolic process	Process	-
5	Homo sapiens	IEA	involved_in	glucocorticoid metabolic process	Process	-
6	Homo sapiens	IBA	enables	cholesterol binding	Function	21873635
7	Homo sapiens	IDA	enables	cholesterol binding	Function	18403318
8	Homo sapiens	IBA	involved_in	intracellular cholesterol transport	Process	21873635
9	Homo sapiens	IEA	involved_in	cellular lipid metabolic process	Process	-
10	Homo sapiens	IBA	involved_in	regulation of steroid biosynthetic process	Process	21873635
11	Homo sapiens	IDA	involved_in	positive regulation of bile acid biosynthetic process	Process	18403318
12	Homo sapiens	IEA	involved_in	intermembrane lipid transfer	Process	-
13	Homo sapiens	IEA	enables	cholesterol transfer activity	Function	-