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FLASH GENE

Symbol

SLC16A8

contributors: mct/npt - updated : 26-03-2020

HGNC name	solute carrier family 16, member 8 (monocarboxylic acid transporter 3)
HGNC id	16270

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	6.05 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

between markers WI11639 and SGC30687

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_013356 6 - 1913 NP_037488 - 504 - 2004 12739169

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to murine Slc16a8
	homolog to rattus Slc16a8

intraspecies

homolog to SLC16A3

Homologene

FAMILY	major facilitator superfamily
	monocarboxylate porter family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
text	preferentially expressed in the basolateral membrane of the retinal pigment epithelium (Daniele 2008)

basic FUNCTION	proton-coupled transporter
	transport of lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate
	proton-coupled monocarboxylate transporter, critically positioned to facilitate transport of lactate and H(+) out of the retina and could therefore play a role in pH and ion homeostasis of the outer retina (
	disruption of SLC16A18 leads to a potentially reversible decrease in subretinal space pH, thereby reducing the magnitude of the light suppressible photoreceptor current

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

text	small molecule transport

PATHWAY

metabolism

monocarbon

signaling

a component

forms a heteromeric complex with the accessory protein CD147 (Daniele 2008)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   leads to a potentially reversible decrease in subretinal space pH, thereby reducing the magnitude of the light suppressible photoreceptor current (Daniele 2008) constitutional germinal mutation       associated with severe psychomotor retardation and triiodothyronine T3 levels (Visser 2008)

Susceptibility

to age-related macular degeneration (AMD)

Variant & Polymorphism other	expression level of SLC16A8 was significantly associated with AMD pathology

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS