| UniProt Protein Function: | SPATA16: Involved in the formation of sperm acrosome, which implicated its potential role in spermatogenesis and sperm-egg fusion. Defects in SPATA16 are the cause of spermatogenic failure type 6 (SPGF6); also known as round-headed spermatozoa. An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon. An autosomal recessive variation of SPATA16 has been shown to be responsible for the disease in a consanguineous family with members homozygous for the variation. Belongs to the SPATA16 family.Chromosomal Location of Human Ortholog: 3q26.31Disease: Spermatogenic Failure 6 |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010] |
| UniProt Code: | Q9BXB7 |
| NCBI GenInfo Identifier: | 190194384 |
| NCBI Gene ID: | 83893 |
| NCBI Accession: | NP_114161.3 |
| UniProt Secondary Accession: | Q9BXB7,Q0R0N4, Q0R0S0, Q0R0W2, Q0R129, Q0R131, Q0R140 Q0R1B8, Q0R1G5, Q0R1I2 |
| UniProt Related Accession: | Q9BXB7 |
| Molecular Weight: | 65,263 Da |
| NCBI Full Name: | spermatogenesis-associated protein 16 |
| NCBI Synonym Full Names: | spermatogenesis associated 16 |
| NCBI Official Symbol: | SPATA16Â Â |
| NCBI Official Synonym Symbols: | SPGF6; NYD-SP12Â Â |
| NCBI Protein Information: | spermatogenesis-associated protein 16 |
| UniProt Protein Name: | Spermatogenesis-associated protein 16 |
| UniProt Synonym Protein Names: | Testis development protein NYD-SP12 |
| Protein Family: | Spermatogenesis-associated protein |
| UniProt Gene Name: | SPATA16Â Â |
| UniProt Entry Name: | SPT16_HUMAN |
