RE: [Renaliste] Acidose tub distale/Surdité/Nehrocalcinose‏

[JM FAIVRE]

Ici
http://www.ncbi.nlm.nih.gov/sites/entrez

ATP6B1

1: Atp6b1
Official Symbol Atp6b1 and Name: ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kDa, isoform 1 [Mus musculus] 
Other Aliases: Vpp-3, Vpp3
Chromosome: 8; Location: 8 33.0 cM
GeneID: 11965
This record was replaced with GeneID: 110935

2: Order cDNA clone, LinksAtp6v1b1
Official Symbol Atp6v1b1 and Name: ATPase, H+ transporting, lysosomal V1 subunit B1 [Mus musculus] 
Other Aliases: AW208839, Atp6b1, D630003L15, D630030L16Rik, D630039P21Rik, Vpp-3, Vpp3
Other Designations: ATPase, H+ transporting, V1 subunit B, isoform 1; ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kDa, isoform 1; ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 1; lysosomal 56/58kDa
Chromosome: 6; Location: 6 32.9 cM
Annotation: Chromosome 6, NC_000072.5 (83693011..83708804)
GeneID: 110935

3: Order cDNA clone, Linksatp6v1b1
Official Symbol atp6v1b1 and Name: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 [Xenopus (Silurana) tropicalis] 
Other Aliases: atp6b1, rta1b, vatb, vma2, vpp3
Other Designations: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness)
GeneID: 100135740

4: Order cDNA clone, LinksATP6V1B1
Official Symbol ATP6V1B1 and Name: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 [Homo sapiens] 
Other Aliases: ATP6B1, MGC32642, RTA1B, VATB, VMA2, VPP3
Other Designations: H(+)-transporting two-sector ATPase, 58kD subunit; H+-ATPase beta 1 subunit; V-ATPase B1 subunit; endomembrane proton pump 58 kDa subunit; vacuolar proton pump 3; vacuolar proton pump, subunit 3
Chromosome: 2; Location: 2p13.1
Annotation: Chromosome 2, NC_000002.11 (71162998..71192561)
MIM: 192132
GeneID: 525

5: Order cDNA clone, LinksAtp6v1b2
Official Symbol Atp6v1b2 and Name: ATPase, H+ transporting, lysosomal V1 subunit B2 [Mus musculus] 
Other Aliases: AI194269, AI790362, Atp6b2, HO57, R74844
Other Designations: ATPase, H+ transporting, V1 subunit B, isoform 2; ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kDa, isoform 2; ATPase, H+ transporting, lysosomal 56/58kD, V1 subunit B, isoform 2; OTTMUSP00000031184; lysosomal 56/58kDa; vacuolar H+ATPase B2
Chromosome: 8; Location: 8 B3.3
Annotation: Chromosome 8, NC_000074.5 (71612684..71637606)
GeneID: 11966

6: Order cDNA clone, LinksAtp6v1b2
Official Symbol Atp6v1b2 and Name: ATPase, H transporting, lysosomal V1 subunit B2 [Rattus norvegicus] 
Other Aliases: Atp6b1b2, Atp6b2, Vatb
Other Designations: ATPase, H+ transporting, V1 subunit B, isoform 2; ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kDa, isoform 2; V-ATPase; vacuolar H+ATPase B2
Chromosome: 16; Location: 16p14
Annotation: Chromosome 16, NC_005115.2 (22320425..22344445, complement)
GeneID: 117596

7: Order cDNA clone, LinksATP6V1B2
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 [Bos taurus] 
Other Designations: H+-ATPase B subunit; H+-ATPase non-catalytic subunit B; vacuolar H+-ATPase; vacuolar H+ATPase B2
Chromosome: 8
Annotation: Chromosome 8, NC_007306.3 (70551051..70577033)
GeneID: 338082


JM F

-----Message d'origine-----
De : renaliste-bounces at nephrodial.org [mailto:renaliste-bounces at nephrodial.org] De la part de Rachid Amaria
Envoyé : mardi 28 juillet 2009 10:32
À : Liste de discussion des néphrologues francophones
Objet : Re: [Renaliste] Acidose tub distale/Surdité/Nehrocalcinose‏


Message de la liste nephrologique francophone RENALISTE
----------------------------------
Petite précision.
Il s'agit dune ATD par mutation du gène  codant pour l'ATP6B1 (connue  
des gens qui s'occupent d'ORPHANET).
L'adactone..... J'y avais pas pensé.  Merci pour l'info.
Pour le magnésium, j'ai souvent essayé d'associé mais dur dur les  
boyaux.....
Pour les calculs, jusqu'à 2008 pas de calcul rénal pour l'une et 2  
petits pour l'autre.
La nephrocalcinose s'est développée chez celle qui m'a avoué qu'elle  
prenait que peu régulièrement

Merci

Dr Rachid Amaria
Clinique du PetitColmoulins
76700 HArfleur (Le Havre)


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