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SPATA5L1 Gabby


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.

  • Hearing Impairment

  • Developmental Delay

  • Intellectual Disability

  • Epilepsy

  • Spasticity

  • ​​​Dystonia/Hypotonia

  • Microcephaly

  • Visual Impairment

  • Abnormal MRI

  • Immunodeficiency

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Research indicates that SPATA5 and SPATA5L1 work together & are essential for ribosome maturation.

This article provides evidence that C1orf109 and SPATA5 together with CINP and SPATA5L1, control a late step of human pre-60S maturation in the cytoplasm. 


(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.


DONATE today

The SPATA Foundation is on a mission to find a treatment that will enhance the lives of those affected by SPATA5 and SPATA5L1. 

The science exists, but it takes time and money. 

Your donation gets us one step closer.

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