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NEDHLS

Chr 15AR

AAA ATPase AFG2B

Also known as: DFNB119, NEDHLS, SPATA5L1

NCBI Gene: 79029 OMIM: 619616

NEDHLS enables protein binding and preribosome binding activities and is involved in ribosomal large subunit biogenesis. Mutations cause a neurodevelopmental disorder with hearing loss and spasticity, inherited in an autosomal recessive pattern. The disorder affects both the nervous system and auditory function, reflecting the protein's essential role in ribosome assembly.

OMIM ResearchSummary from RefSeq, OMIM

Enables identical protein binding activity and preribosome binding activity. Involved in ribosomal large subunit biogenesis. Located in cytoplasm and spindle. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— NEDHLS

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/NEDHLS?content-type=application/json&expand=1

gnomad: Error: Gene not found