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ATP6V1B1 FISH Probe

The ATP6V1B1 FISH probe is designed to hybridize to the ATP6V1B1 gene and is primarily used for detecting amplifications and deletions associated with the gene. This probe is FISH confirmed on normal peripheral blood metaphase spreads and interphase nuclei. The probe can be labeled in one of five colors. Each probe is sold in a 20 test kit (approximately 20 slides - 22x22 mm area) and includes hybridization buffer. Please note that due to design optimizations, prices are subject to change.

SKU Test Kits Buffer Dye Color Order Now
ATP6V1B1-20-OR  (Standard Design) 20 (40 μL) 200 μL
ATP6V1B1-20-RE 20 (40 μL) 200 μL
ATP6V1B1-20-GO 20 (40 μL) 200 μL
ATP6V1B1-20-GR 20 (40 μL) 200 μL
ATP6V1B1-20-AQ 20 (40 μL) 200 μL
ATP6V1B1-20-DIG 20 (40 μL) 200 μL
ATP6V1B1-20-BIO 20 (40 μL) 200 μL

Gene Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]

Gene Details

Gene Symbol: ATP6V1B1

Gene Name: ATPase H+ Transporting V1 Subunit B1

Chromosome: CHR2: 71162997-71192561

Locus: 2p13.3

Gene Diseases

The ATP6V1B1 gene has been associated with the following diseases:

Disease Name
2-Hydroxyglutaricaciduria
49,XXXXX Syndrome
Aagenaes Syndrome
Abderhalden-Kaufmann-Lignac Syndrome
Achard Syndrome
Achard-Thiers Syndrome
Acidosis
Acne Vulgaris
Acrootoocular Syndrome
Acrorenal Syndrome
Acrorenal Syndrome Recessive
Akaba Hayasaka Syndrome
Akesson Syndrome
Aloi Tomasini Isaia Syndrome
Alsing Syndrome
Ameloonychohypohidrotic Syndrome
Ansell Bywaters Elderking Syndrome
Arakawa Syndrome 2
AREDYLD Syndrome
Arima Syndrome
Aughton Syndrome
Ayazi Syndrome
BADS Syndrome
Baetz-Greenwalt Syndrome
Bagatelle Cassidy Syndrome
Bangstad Syndrome
Banki Syndrome
Banti's Syndrome
Basaran Yilmaz Syndrome
Bassoe Syndrome
Bazopoulou Kyrkanidou Syndrome
Beardwell Syndrome
Beemer Ertbruggen Syndrome
Bellini Chiumello Rimoldi Syndrome
Blepharo-cheilo-dontic Syndrome
Blount Disease
Boerhaave Syndrome
Bonneau Syndrome
Boudhina Yedes Khiari Syndrome
Brachioskeletogenital Syndrome
Brachymesomelia Renal Syndrome
Brachymesophalangy 2 And 5
Branchiogenic-Deafness Syndrome
Brunoni Syndrome
CAHMR Syndrome
Calabro Syndrome
CAMFAK Syndrome
Campomelia Cumming Type
CANOMAD Syndrome
Cantalamessa Baldini Ambrosi Syndrome
Cardiocranial Syndrome
Carrington Syndrome
CATSHL Syndrome
Cerebrooculonasal Syndrome
Chilaiditi Syndrome
CLAPO Syndrome
Cleidorhizomelic Syndrome
Corneodermatoosseous Syndrome
Coxoauricular Syndrome
Cranioacrofacial Syndrome
Craniofaciofrontodigital Syndrome
Craniomicromelic Syndrome
Crome Syndrome
Curatolo Cilio Pessagno Syndrome
D-glycericacidemia
Daentl Towsend Siegel Syndrome
Daish Hardman Lamont Syndrome
Daneman Davy Mancer Syndrome
Davenport Donlan Syndrome
Deafness
Dermatoosteolysis Kirghizian Type
Devriendt Syndrome
Dieterich's Disease
Digitorenocerebral Syndrome
Dimauro Disease
Disease
Drachtman Weinblatt Sitarz Syndrome
Enlarged Vestibular Aqueduct
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Fairbank Disease
FLOTCH Syndrome
Flynn Aird Syndrome
Fountain Syndrome
Franceschini Vardeu Guala Syndrome
Freiberg's Disease
Frontoocular Syndrome
Furlong Syndrome
Furukawa Takagi Nakao Syndrome
Gastrocutaneous Syndrome
Gemignani Syndrome
GEMSS Syndrome
Genoa Syndrome
Giacheti Syndrome
Gollop Coates Syndrome
GOMBO Syndrome
Granddad Syndrome
Grover's Disease
Gurrieri Sammito Bellussi Syndrome
Hadziselimovic Syndrome
Hagemoser Weinstein Bresnick Syndrome
Halal Syndrome
Hamanishi Ueba Tsuji Syndrome
Hamano Tsukamoto Syndrome
Hapnes Boman Skeie Syndrome
Hardikar Syndrome
Hearing Loss
Herrmann Syndrome
Hersh Podruch Weisskopk Syndrome
Hooft Disease
Hordnes Engebretsen Knudtson Syndrome
Human Balantidiasis
Hunt's Syndrome
Iida Kannari Syndrome
Jagell Holmgren Hofer Syndrome
Kaplowitz Bodurtha Syndrome
Kasabach-Merritt Syndrome
Kashani Strom Utley Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
Kennerknecht Sorgo Oberhoffer Syndrome
Kleeblattschaedel Syndrome
Koone Rizzo Elias Syndrome
Kosztolanyi Syndrome
Krasnow Qazi Syndrome
Kuskokwim Disease
Kuzniecky Syndrome
Kyrle Disease
Lachiewicz Sibley Syndrome
Lacrimoauriculodentodigital Syndrome
Lambotte Syndrome
Lelis Syndrome
Lemierre Syndrome
Lyngstadaas Syndrome
Malouf Syndrome
Manouvrier Syndrome
Marchiafava-Bignami Disease
Marsden Syndrome
Massa Casaer Ceulemans Syndrome
May-Thurner Syndrome
Mehes Syndrome
Melhem Fahl Syndrome
Mengel Konigsmark Syndrome
Merlob Grunebaum Reisner Syndrome
Meyenburg-Altherr-Uehlinger Syndrome
Mirizzi Syndrome
Mollica Pavone Antener Syndrome
MOMES Syndrome
Mononen Karnes Senac Syndrome
Morgellons Disease
Nasodigitoacoustic Syndrome
Nathalie Syndrome
Nephrolithiasis
Neurofaciodigitorenal Syndrome
Nevo Syndrome
Nicolau Syndrome
Nievergelt Syndrome
Nivelon Nivelon Mabille Syndrome
Oculoauriculofrontonasal Syndrome
Oculocerebrocutaneous Syndrome
Oculodental Syndrome Rutherfurd Syndrome
Oculootoradial Syndrome
Oculopalatocerebral Syndrome
Oculopalatoskeletal Syndrome
Oculorenocerebellar Syndrome
Onat Syndrome
Oroticaciduria 1
Oslam Syndrome
Otoonychoperoneal Syndrome
Pascual Castroviejo Syndrome
Pashayan Syndrome
Pavone Fiumara Rizzo Syndrome
PHACE Association
Pilotto Syndrome
Piussan Lenaerts Mathieu Syndrome
Podder-Tolmie Syndrome
Postthrombotic Syndrome
Preeyasombat Varavithya Syndrome
Primary Dysautonomias
Propping Zerres Syndrome
Pseudoaminopterin Syndrome
Pseudotrisomy 13 Syndrome
Qazi Markouizos Syndrome
Rambaud Galian Syndrome
Ramer Ladda Syndrome
Reginato Schiapachasse Syndrome
Renal Aminoacidurias
Renal Tubular Acidosis, Distal, Type 3
Retinohepatoendocrinologic Syndrome
RHYNS Syndrome
Ribbing Disease
Richards-Rundle Syndrome
Rombo Syndrome
Rosselli-Gulienetti Syndrome
Rudiger Syndrome
Sakoda Complex
Salcedo Syndrome
Sandifer Syndrome
Satoyoshi Syndrome
Schlegelberger Grote Syndrome
Schofer Beetz Bohl Syndrome
Scholte Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Seaver Cassidy Syndrome
Seemanova Lesny Syndrome
Sener Syndrome
Shapiro Syndrome
Silengo Lerone Pelizza Syndrome
Sillence Syndrome
Sohval Soffer Syndrome
Steinfeld Syndrome
Summitt Syndrome
SUNCT Syndrome
Susac Syndrome
Syndrome
Syringomas, Multiple
Tabatznik Syndrome
Tonoki Syndrome
Trichodental Syndrome
Trueb Burg Bottani Syndrome
Tsukahara Syndrome
Tucker Syndrome
Upington Disease
Vacuolar Neuromyopathy
Velofacioskeletal Syndrome
Verloove-Vanhorick Brubakk Syndrome
Volcke Soekarman Syndrome
Walbaum Titran Durieux Crepin Syndrome
Waldmann Disease
Warburton Anyane Yeboa Syndrome
Warman Mulliken Hayward Syndrome
Weismann Netter Syndrome
Wyburn Mason's Syndrome
Yusho Disease
Zazam Sheriff Phillips Syndrome
Zechi-Ceide Syndrome
Zlotogora-Ogur Syndrome
Zuska's Disease

FISH Probe Protocols

Protocol, Procedure, or Form Name Last Modified Download

Scientific Citations

There are currently no FISH related citations for this gene.

Product Details

Product: ATP6V1B1 FISH Probe

Test Kits: 20 (40 μL)

ISH Buffer: 200 μL

SKU: ATP6V1B1-20-OR

Material Safety Data Sheet: MSDS.pdf

Turnaround Time: 7-10 Business Days

Shipping Time: 1-2 Day Expedited Shipping