ATP-dependent chaperone part of the 55LCC heterohexameric ATPase complex which is chromatin-associated and promotes replisome proteostasis to maintain replication fork progression and genome stability. Required for replication fork progression, sister chromatid cohesion, and chromosome stability. The ATPase activity is specifically enhanced by replication fork DNA and is coupled to cysteine protease-dependent cleavage of replisome substrates in response to replication fork damage. Uses ATPase activity to process replisome substrates in S-phase, facilitating their proteolytic turnover from chromatin to ensure DNA replication and mitotic fidelity (PubMed:38554706). Plays an essential role in the cytoplasmic maturation steps of pre-60S ribosomal particles by promoting the release of shuttling protein RSL24D1/RLP24 from the pre-ribosomal particles (PubMed:35354024).
Deafness, autosomal recessive, 119
DFNB119
A form of non-syndromic deafness characterized by mild to profound sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
None
The disease is caused by variants affecting the gene represented in this entry.
Neurodevelopmental disorder with hearing loss and spasticity
NEDHLS
An autosomal recessive neurodevelopmental disorder characterized by hearing loss, global developmental delay, impaired intellectual development, hypotonia, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the AAA ATPase family. AFG2 subfamily.
Expressed in both neurons and glia during embryonic and adult stages of brain development.
SPATA5L1, AFG2B, ATPase family gene 2 protein homolog B, AFG2 AAA ATPase homolog B, Ribosome biogenesis protein SPATA5L1, Spermatogenesis-associated protein 5-like protein 1
Proteins
80710Da
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