| UniProt Protein Function: | FAM161A: Defects in FAM161A are the cause of retinitis pigmentosa type 28 (RP28). A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the FAM161 family. 3 isoforms of the human protein are produced by alternative splicing.Protein type: CytoskeletalChromosomal Location of Human Ortholog: 2p15Cellular Component: centrosome; cytoplasm; photoreceptor connecting ciliumMolecular Function: protein bindingBiological Process: visual perception; response to stimulus; cilium biogenesisDisease: Retinitis Pigmentosa 28 |
| UniProt Protein Details: | |
| NCBI Summary: | 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] |
| UniProt Code: | Q3B820 |
| NCBI GenInfo Identifier: | 320089540 |
| NCBI Gene ID: | 84140 |
| NCBI Accession: | NP_001188472.1 |
| UniProt Secondary Accession: | Q3B820,Q9H8R2, B4DJV7 |
| UniProt Related Accession: | Q3B820 |
| Molecular Weight: | 76,752 Da |
| NCBI Full Name: | protein FAM161A isoform 1 |
| NCBI Synonym Full Names: | family with sequence similarity 161, member A |
| NCBI Official Symbol: | FAM161AÂ Â |
| NCBI Official Synonym Symbols: | RP28Â Â |
| NCBI Protein Information: | protein FAM161A; retinitis pigmentosa 28 (autosomal recessive) |
| UniProt Protein Name: | Protein FAM161A |
| UniProt Synonym Protein Names: | |
| Protein Family: | Protein |
| UniProt Gene Name: | FAM161AÂ Â |
| UniProt Entry Name: | F161A_HUMAN |
