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2.A.1.13.10
MCT8 (SLC16a2) homodimeric monocarboxylate thyroid hormone transporter 8 (Visser et al. 2009; Arjona et al., 2011).  The X-linked mental retardation Allan-Herndon-Dudley syndrome (AHDS) (a severe psychomotor retardation syndrome) protein (Schweizer and Köhrle 2012; Boccone et al. 2010; Johannes et al. 2016). Arg residues important for function have been identified (Groeneweg et al. 2013).  Thyroid hormone transporters in the brain and across the blood brain barrier have been reviewed (Wirth et al. 2014; Bernal et al. 2015). The SLC16A2 gene is located on the X chromosome. The product facilitates both TH uptake and efflux across the cell membrane. The disease goes together with low serum T4 and high T3 levels.

Accession Number:P36021
Protein Name:Monocarboxylate transporter 8
Length:539
Molecular Weight:59511.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:12
Location1 / Topology2 / Orientation3: Cell membrane1 / Multi-pass membrane protein2
Substrate Thyroid hormones

Cross database links:

Genevestigator: P36021 P36021
eggNOG: prNOG05423 NOG321880
Entrez Gene ID: 6567   
Pfam: PF07690   
Drugbank: Drugbank Link   
KEGG: hsa:6567    hsa:6567   

Gene Ontology

GO:0005887 C:integral to plasma membrane
GO:0005624 C:membrane fraction
GO:0008028 F:monocarboxylic acid transmembrane transporter activity
GO:0015293 F:symporter activity
GO:0015349 F:thyroid hormone transmembrane transporter activity

References (20)

[1] “A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.”  Lafreniere R.G.et.al.   7981683
[2] “The DNA sequence of the human X chromosome.”  Ross M.T.et.al.   15772651
[3] “Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.”  Olsen J.V.et.al.   17081983
[4] “Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.”  Gauci S.et.al.   19413330
[5] “Evidence for a homodimeric structure of human monocarboxylate transporter 8.”  Visser W.E.et.al.   19797118
[6] “A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.”  Dumitrescu A.M.et.al.   14661163
[7] “MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.”  Frints S.G.et.al.   18398436
[8] “Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.”  Friesema E.C.H.et.al.   15488219
[9] “Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.”  Schwartz C.E.et.al.   15889350
[10] “Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.”  Visser W.E.et.al.   18636565
[11] “A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.”  Lafreniere R.G.et.al.   7981683
[12] “The DNA sequence of the human X chromosome.”  Ross M.T.et.al.   15772651
[13] “Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.”  Olsen J.V.et.al.   17081983
[14] “Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.”  Gauci S.et.al.   19413330
[15] “Evidence for a homodimeric structure of human monocarboxylate transporter 8.”  Visser W.E.et.al.   19797118
[16] “A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.”  Dumitrescu A.M.et.al.   14661163
[17] “MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.”  Frints S.G.et.al.   18398436
[18] “Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.”  Friesema E.C.H.et.al.   15488219
[19] “Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.”  Schwartz C.E.et.al.   15889350
[20] “Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.”  Visser W.E.et.al.   18636565

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FASTA formatted sequence
1:	MALQSQASEE AKGPWQEADQ EQQEPVGSPE PESEPEPEPE PEPVPVPPPE PQPEPQPLPD 
61:	PAPLPELEFE SERVHEPEPT PTVETRGTAR GFQPPEGGFG WVVVFAATWC NGSIFGIHNS 
121:	VGILYSMLLE EEKEKNRQVE FQAAWVGALA MGMIFFCSPI VSIFTDRLGC RITATAGAAV 
181:	AFIGLHTSSF TSSLSLRYFT YGILFGCGCS FAFQPSLVIL GHYFQRRLGL ANGVVSAGSS 
241:	IFSMSFPFLI RMLGDKIKLA QTFQVLSTFM FVLMLLSLTY RPLLPSSQDT PSKRGVRTLH 
301:	QRFLAQLRKY FNMRVFRQRT YRIWAFGIAA AALGYFVPYV HLMKYVEEEF SEIKETWVLL 
361:	VCIGATSGLG RLVSGHISDS IPGLKKIYLQ VLSFLLLGLM SMMIPLCRDF GGLIVVCLFL 
421:	GLCDGFFITI MAPIAFELVG PMQASQAIGY LLGMMALPMI AGPPIAGLLR NCFGDYHVAF 
481:	YFAGVPPIIG AVILFFVPLM HQRMFKKEQR DSSKDKMLAP DPDPNGELLP GSPNPEEPI