about
THE GENES
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. They are sometimes referred to as AFG2A(SPATA5) and AFG2B(SPATA5L1)
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Research indicates that SPATA5 and SPATA5L1 are essential for ribosome maturation (Buszczak, 2022)
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Because these genes are so closely related, disorders related to SPATA5 and SPATA5L1 result in strikingly similar characteristics.
SYMPTOMS
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.
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Hearing Loss
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Developmental Delay
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Physical/Intellectual Disability
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Epilepsy
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Feeding Difficulties
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Visual Impairment (most commonly Cortical Visual Impairment)
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Spasticity
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​​​Dystonia
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Chorea
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Ataxia
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Hypotonia
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Microcephaly
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Abnormal MRI
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Neurostorming​
Most of the information on SPATA5 and SPATA5L1 is buried in
hard-to-read scientific articles.
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Research indicates that SPATA5 and SPATA5L1 work together & are essential for ribosome maturation and protein homeostasis.
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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.
SPATA5
(Spermatogenesis Associated 5)
Sometimes referred to as AFG2A
The function of the SPATA5 gene is not entirely understood.
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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.
SPATA5L1
(Spermatogenesis Associated 5 Like 1)
Sometimes referred to as AFG2B
Not as much information is known about SPATA5L1.
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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.
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Interestingly enough, there is a subset of SPATA5L1 variants that result in non-syndromic hearing loss, without neurodevelopment symptoms.
