INHA Gene - Inhibin Subunit Alpha
Key regulator of reproductive hormone signaling and gonadal function
Gene Information Card
| Symbol | INHA |
|---|---|
| Full Name | Inhibin Subunit Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 3623 ncbi.nlm.nih.gov/gene/3623 |
| Ensembl ID | ENSG00000123999 |
| UniProt ID | P05111 |
| OMIM ID | 147380 |
| HGNC ID | 6065 |
| Aliases | INHBA, inhibin alpha chain |
Description
The INHA gene encodes the alpha subunit of inhibin, a member of the transforming growth factor-beta (TGF-beta) superfamily. Inhibin is a heterodimeric glycoprotein that suppresses follicle-stimulating hormone (FSH) secretion from the pituitary gland. The alpha subunit dimerizes with either a beta A or beta B subunit to form inhibin A or inhibin B, respectively. INHA plays a critical role in gonadal function, fertility, and tumor suppression in reproductive tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Premature Ovarian Failure 1 (POF1) | Loss-of-function mutations in INHA disrupt inhibin production, leading to elevated FSH and early depletion of ovarian follicles. | OMIM #311360; ClinVar |
| Granulosa Cell Tumors of the Ovary | Somatic mutations and altered INHA expression contribute to dysregulated TGF-beta signaling and tumorigenesis. | COSMIC; PMID: 10601291 |
| Testicular Germ Cell Tumors | Reduced INHA expression is associated with impaired feedback regulation of FSH and increased tumor risk. | NCBI Gene; PMID: 16951120 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | Medium |
| Testis | 8.3 | Low |
| Adrenal Gland | 6.1 | Low |
| Placenta | 4.7 | Low |
| Prostate | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| KGN (Granulosa-like) | 15.2 | Ovarian granulosa cell line |
| NTERA-2 (Testicular embryonal carcinoma) | 9.8 | Pluripotent testicular cancer cell line |
| HepG2 (Hepatocellular carcinoma) | 1.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.769G>A (p.Ala257Thr) | Missense | Rare | Associated with premature ovarian failure; disrupts subunit dimerization |
| c.788C>T (p.Pro263Leu) | Missense | Rare | Impaired inhibin secretion; linked to POF1 |
| c.1030C>T (p.Arg344*) | Nonsense | Very rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations in INHA reduce or abolish inhibin production, leading to elevated FSH and gonadal dysfunction.
Gain of Function (GOF)
Not reported for INHA.
Dominant Negative (DN)
Some missense variants (e.g., Ala257Thr) may exert dominant-negative effects by interfering with dimerization of wild-type subunits.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Ovarian steroidogenesis (KEGG: hsa04913)
• Regulation of FSH secretion (Reactome: R-HSA-376176)
Protein Summary
Inhibin alpha subunit (UniProt P05111) is a 366-amino-acid precursor protein that undergoes proteolytic cleavage to generate the mature 134-residue alpha chain. It forms disulfide-linked heterodimers with inhibin beta subunits to produce inhibin A (alpha-beta A) and inhibin B (alpha-beta B). The protein is predominantly expressed in gonadal tissues and acts as a negative feedback regulator of FSH secretion. Mutations in INHA are associated with premature ovarian failure and gonadal tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INHA Knockout HEK293 Cell Line | EDJ-KQ4995 | Human | 3623 | Details Get a Quote |
| INHA Knockout HeLa Cell Line | EDJ-KQ53660 | Human | 3623 | Details Get a Quote |
| INHA Knockout A-549 Cell Line | EDJ-KQ62134 | Human | 3623 | Details Get a Quote |
| INHA Knockout HCT 116 Cell Line | EDJ-KQ70624 | Human | 3623 | Details Get a Quote |
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