Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10881
MIM: 604303
HGNC: 161
Ensembl: ENSG00000187003
Variants:
dbSNP: 10881
ClinVar: 10881
TCGA: ENSG00000187003
COSMIC: ACTL7A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000187003 | ENST00000333999 | Q9Y615 |
| ENSG00000187003 | ENST00000333999 | A0A140VK03 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36574082 | 2023 | A novel homozygous mutation in ACTL7A leads to male infertility. | 2 |
| 36593593 | 2023 | Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure. | 4 |
| 36734600 | 2023 | Testis-specific actin-like 7A (ACTL7A) is an indispensable protein for subacrosomal-associated F-actin formation, acrosomal anchoring, and male fertility. | 6 |
| 37286336 | 2023 | A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns. | 1 |
| 36574082 | 2023 | A novel homozygous mutation in ACTL7A leads to male infertility. | 2 |
| 36593593 | 2023 | Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure. | 4 |
| 36734600 | 2023 | Testis-specific actin-like 7A (ACTL7A) is an indispensable protein for subacrosomal-associated F-actin formation, acrosomal anchoring, and male fertility. | 6 |
| 37286336 | 2023 | A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns. | 1 |
| 22386842 | 2012 | Anti-ACTL7a antibodies: a cause of infertility. | 8 |
| 22386842 | 2012 | Anti-ACTL7a antibodies: a cause of infertility. | 8 |
| 21278383 | 2011 | Molecular recognition of the Tes LIM2-3 domains by the actin-related protein Arp7A. | 18 |
| 21278383 | 2011 | Molecular recognition of the Tes LIM2-3 domains by the actin-related protein Arp7A. | 18 |
| 18720898 | 2008 | Applying novel genome-wide linkage strategies to search for loci influencing type 2 diabetes and adult height in American Samoa. | 1 |
| 18720898 | 2008 | Applying novel genome-wide linkage strategies to search for loci influencing type 2 diabetes and adult height in American Samoa. | 1 |
Citation
Dessen P
ACTL7A (actin like 7A)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60115/teaching-explorer/gene-explorer/
