Property Summary

NCBI Gene PubMed Count 17
PubMed Score 15.07
PubTator Score 9.10

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (21)

Synonym

Accession Q02252 B2R609 B4DFS8 J3KNU8 Q9UKM8 MMSDH
Symbols MMSDH
MMSADHA

Gene

PANTHER Protein Class (2)

Gene RIF (5)

PMID Text
25099943 ACAT1, ACACA, ALDH6A1 and MTHFD1 represent novel biomarkers in adipose tissue associated with type 2 diabetes in obese individuals.
21863277 Mutation analysis in the ALDH6A1 gene can reveal a cause of 3-hydroxyisobutyric aciduria, which may present with only slightly increased urinary levels of 3-hydroxyisobutyric acid, if a patient is metabolically stable [case reports]
20877624 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19343046 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIHNPATNEVIGR      1 - 70
VPQATKAEMDAAIASCKRAFPAWADTSVLSRQQVLLRYQQLIKENLKEIAKLITLEQGKTLADAEGDVFR     71 - 140
GLQVVEHACSVTSLMMGETMPSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKP    141 - 210
SERVPGATMLLAKLLQDSGAPDGTLNIIHGQHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRV    211 - 280
QANMGAKNHGVVMPDANKENTLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQ    281 - 350
PGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTCYKEEIFG    351 - 420
PVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLPMFSFTGSRSS    421 - 490
FRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR                             491 - 535
//

Text Mined References (22)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25099943 2014 Downregulation of the acetyl-CoA metabolic network in adipose tissue of obese diabetic individuals and recovery after weight loss.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23835272 2013 Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
21863277 2012 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
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