2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 2 - Protein

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In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing. [Clin Chim Acta. 2018]
In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.
Fernández-Lainez C, Aláez-Verson C, Ibarra-González I, Enríquez-Flores S, Carrillo-Sanchez K, Flores-Lagunes L, Guillén-López S, Belmont-Martínez L, Vela-Amieva M. Clin Chim Acta. 2018 Aug; 483:33-38. Epub 2018 Apr 16.
Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease. [Genet Med. 2014]
Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease.
You Y, Sun Y, Li X, Li Y, Wei X, Chen F, Ge H, Lan Z, Zhu Q, Tang Y, et al. Genet Med. 2014 Aug; 16(8):594-600. Epub 2014 Mar 6.
Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease. [J Pediatr Endocrinol Metab. 2013]
Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.
Ali EZ, Yunus ZM, Desa NM, Hock NL. J Pediatr Endocrinol Metab. 2013; 26(9-10):975-80.

RefSeq mRNA
See reference mRNA sequence for the BCKDHA gene (NM_001164783.2).
RefSeq protein isoforms
See the other reference sequence protein isoform for the BCKDHA gene (NP_000700.1).

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NP_001158255 [Domain Mapping of Disease Mut...]
NP_001158255
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 2 precursor ...
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 2 precursor [Homo sapiens]
gi|258645172|ref|NP_001158255.1|

Protein
JUP junction plakoglobin [Homo sapiens]
JUP junction plakoglobin [Homo sapiens]
Gene ID:3728

Gene
Gene Links for OMIM (Select 601214) (1)
Gene
BioSample Links for BioProject (Select 980622) (24)
BioSample
GCA_000736555
GCA_000736555

biosample

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Protein