FAM161A - FAM161 centrosomal protein A (human)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2025-02-02
Description
This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]
Enables identical protein binding activity and microtubule binding activity. Involved in cilium assembly and positive regulation of protein acetylation. Located in microtubule cytoskeleton; photoreceptor connecting cilium; and photoreceptor inner segment. Implicated in retinitis pigmentosa 28.
- RP28
- protein FAM161A
- FAM161A, centrosomal protein
- family with sequence similarity 161 member A
- retinitis pigmentosa 28 (autosomal recessive)
Involved in ciliogenesis.
Isoform
UniProt ID
RefSeq Accession
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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