WHAT IS SPATA 5?
WHAT IS SPATA5L1?
The first thing to understand is that SPATA5 and SPATA5L1 are separate genes with a common ancestry and similar structure and function. Think of them like cousins.
Research indicates that SPATA5 and SPATA5L1 are essential for ribosome maturation (Buszczak, 2022)
Because these genes are so closely related, disorders related to SPATA5 and SPATA5L1 results in strikingly similar characteristics.
Most of the information on SPATA5 and SPATA5L1 is buried in
hard-to-read scientific articles.
We've done our best at laying out the important details in layman's terms, but we've also provided links to the scientific articles.
It's important to note that every case is different, and not everyone affected will experience all symptoms, and symptoms may be experienced at various degrees of severity.
(Spermatogenesis Associated 5)
Sometimes referred to as AFG2A
The function of the SPATA5 gene is not entirely understood.
We know SPATA5 protein localizes predominantly in the mitochondria and is proposed to be involved in mitochondrial function and brain developmental processes.
However no functional studies have been performed.
(Spermatogenesis Associated 5 Like 1)
Sometimes referred to as AFG2B
Not as much information is known about SPATA5L1.
Spermatogenesis-associated 5 like 1 represents an orphan gene encoding a protein of unknown function.
It is predicted to enable ATP binding activity. Located in cytoplasm and spindle.
Interestingly enough, there is a subset of SPATA5L1 variants that result in non-syndromic hearing loss, without neurodevelopment symptoms.