RecName: Full=BBSome complex member BBS5; AltName: Full=Bardet-Biedl s - Protein

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Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS). [Ophthalmic Genet. 2020]
Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS).
Torrefranca AB, Santiago APD, Lingao MD, Racoma MJC. Ophthalmic Genet. 2020 Dec; 41(6):621-624. Epub 2020 Aug 19.
Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. [Biosci Rep. 2019]
Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing.
Imani S, Cheng J, Fu J, Mobasher-Jannat A, Wei C, Mohazzab-Torabi S, Jadidi K, Khosravi MH, Shasaltaneh MD, Yang L, et al. Biosci Rep. 2019 Mar 29; 39(3). Epub 2019 Mar 28.
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina. [PLoS One. 2016]
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.
Bolch SN, Dugger DR, Chong T, McDowell JH, Smith WC. PLoS One. 2016; 11(2):e0148773. Epub 2016 Feb 11.

RefSeq genomic sequence
See the genomic reference sequence for the BBS5 gene (NG_011567.1).
RefSeq protein
See the reference protein sequence for BBSome complex member BBS5 (NP_689597.1).

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Q8N3I7 [Domain Mapping of Disease Mut...]
Q8N3I7
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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RecName: Full=BBSome complex member BBS5; AltName: Full=Bardet-Biedl syndrome 5 ...
RecName: Full=BBSome complex member BBS5; AltName: Full=Bardet-Biedl syndrome 5 protein
gi|74750959|sp|Q8N3I7.1|BBS5_HUMAN

Protein
DUX5 double homeobox 5 [Homo sapiens]
DUX5 double homeobox 5 [Homo sapiens]
Gene ID:26581

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Protein