tubby protein homolog isoform b [Homo sapiens]

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A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family. [BMC Med Genomics. 2023]
A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family.
Xu W, Xu M, Yin Q, Liu C, Cao Q, Deng Y, Liu S, He G. BMC Med Genomics. 2023 Jan 18; 16(1):9. Epub 2023 Jan 18.
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium. [Int J Mol Sci. 2022]
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
Ziccardi L, Niceta M, Stellacci E, Ciolfi A, Tatti M, Bruselles A, Mancini C, Barbano L, Cecchetti S, Costanzo E, et al. Int J Mol Sci. 2022 Nov 24; 23(23). Epub 2022 Nov 24.
Candidate variants in TUB are associated with familial tremor. [PLoS Genet. 2020]
Candidate variants in TUB are associated with familial tremor.
Sailani MR, Jahanbani F, Abbott CW, Lee H, Zia A, Rego S, Winkelmann J, Hopfner F, Khan TN, Katsanis N, et al. PLoS Genet. 2020 Sep; 16(9):e1009010. Epub 2020 Sep 21.

RefSeq genomic sequence
See the genomic reference sequence for the TUB gene (NG_029912.2).
RefSeq mRNA
See reference mRNA sequence for the TUB gene (NM_177972.3).
RefSeq protein isoforms
See 18 reference sequence protein isoforms for the TUB gene.

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NP_813977 [Domain Mapping of Disease Mut...]
NP_813977
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

tubby protein homolog isoform b [Homo sapiens]
tubby protein homolog isoform b [Homo sapiens]
gi|29826279|ref|NP_813977.1|

Protein
Plateletpheresis
Plateletpheresis
The preparation of platelet concentrates with the return of red cells and platelet-poor plasma to the donor.<br/>Year introduced: 1991(1979)

MeSH
Kv1.6 Potassium Channel
Kv1.6 Potassium Channel
A delayed rectifier subtype of shaker potassium channels that has been described in NEURONS and ASTROCYTES.<br/>Year introduced: 2006(2004)

MeSH
Kv1.5 Potassium Channel
Kv1.5 Potassium Channel
A delayed rectifier subtype of shaker potassium channels that conducts a delayed rectifier current. It contributes to ACTION POTENTIAL repolarization of MYOCYTES in HEART ATRI...<br/>Year introduced: 2006(1995)

MeSH

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Protein