RecName: Full=V-type proton ATPase 116 kDa subunit a 3; Short=V-ATPase - Protein

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Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene. [J Clin Endocrinol Metab. 2024]
Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.
Jodeh W, Katz AJ, Hart M, Warden SJ, Niziolek P, Alam I, Ing S, Polgreen LE, Imel EA, Econs MJ. J Clin Endocrinol Metab. 2024 Jun 17; 109(7):1726-1732.
Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families. [Genes (Basel). 2023]
Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families.
El-Kamah GY, Mehrez MI, Taher MB, El-Bassyouni HT, Gaber KR, Amr KS. Genes (Basel). 2023 Apr 12; 14(4). Epub 2023 Apr 12.
Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene. [Bone. 2022]
Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene.
Capo V, Abinun M, Villa A. Bone. 2022 Dec; 165:116519. Epub 2022 Aug 15.

RefSeq genomic sequence
See the genomic reference sequence for the TCIRG1 gene (NG_007878.1).
RefSeq protein isoforms
See 17 reference sequence protein isoforms for the TCIRG1 gene.

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Q13488 [Domain Mapping of Disease Mut...]
Q13488
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

RecName: Full=V-type proton ATPase 116 kDa subunit a 3; Short=V-ATPase 116 kDa s...
RecName: Full=V-type proton ATPase 116 kDa subunit a 3; Short=V-ATPase 116 kDa subunit a 3; AltName: Full=Osteoclastic proton pump 116 kDa subunit; Short=OC-116 kDa; Short=OC116; AltName: Full=T-cell immune regulator 1; AltName: Full=T-cell immune response cDNA7 protein; Short=TIRC7; AltName: Full=Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3
gi|223634720|sp|Q13488.3|VPP3_HUMAN

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