FABP9 (Fatty Acid Binding Protein 9)
Testis-specific fatty acid binding protein involved in spermatogenesis and lipid transport.
Gene Information Card
| Symbol | FABP9 |
|---|---|
| Full Name | Fatty Acid Binding Protein 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 646480 ncbi.nlm.nih.gov/gene/646480 |
| Ensembl ID | ENSG00000164619 |
| UniProt ID | Q0Z7S8 |
| OMIM ID | 612607 |
| HGNC ID | 24872 |
| Aliases | PERF, PERF15, T-FABP, MCP7 |
Description
FABP9 encodes a testis-specific fatty acid binding protein that belongs to the intracellular lipid-binding protein family. It is predominantly expressed in the testis, specifically in spermatids, and is involved in the transport of long-chain fatty acids, spermatogenesis, and acrosome formation. The protein is also known as PERF15 and is a component of the perinuclear theca of sperm.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered FABP9 expression may disrupt spermatogenesis and sperm function | Limited; expression studies in infertile men show reduced FABP9 levels |
| Testicular germ cell tumors | Potential role in lipid metabolism in tumor cells | Low; expression changes observed in some tumor samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Adipose tissue | 0.2 | Not detected |
| Liver | 0.1 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | Not available | Expressed in spermatids |
| Spermatozoa | Not available | Present in perinuclear theca |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon, unknown effect |
| c.100C>T (p.Arg34Trp) | Missense | Rare | May affect protein structure |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • fatty acid binding (GO:0005504) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • spermatogenesis (GO:0007283) |
| • fatty acid transport (GO:0015908) |
Pathways
• Fatty acid metabolism
• PPAR signaling pathway
Protein Summary
FABP9 is a 132-amino acid protein with a molecular weight of approximately 15 kDa. It adopts a beta-barrel structure typical of fatty acid binding proteins, with a high-affinity binding pocket for long-chain fatty acids. The protein is localized to the cytoplasm and perinuclear theca of sperm, where it may play a role in lipid storage and acrosome biogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FABP9 Knockout HEK293 Cell Line | EDJ-KQ13350 | Human | 646480 | Details Get a Quote |
| FABP9 Knockout HeLa Cell Line | EDJ-KQ60605 | Human | 646480 | Details Get a Quote |
| FABP9 Knockout A-549 Cell Line | EDJ-KQ69075 | Human | 646480 | Details Get a Quote |
| FABP9 Knockout HCT 116 Cell Line | EDJ-KQ77428 | Human | 646480 | Details Get a Quote |
