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FLASH GENE

Symbol

SLC19A1

contributors: - updated : 20-06-2006

HGNC name	solute carrier family 19 (folate transporter), member 1
HGNC id	10937

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

twelve transmembrane spanning segments (12TM)

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to murine Slc19a1
	homolog to Drosophila CG6574

intraspecies

homolog to C.elegans C50E3

Homologene

FAMILY

solute carrier family 19, folate

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

playing a role in maintaining intracellular concentrations of folate

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to spina bifida and neural tube defect

Variant & Polymorphism SNP	80G>A in spina bifida
	polymorphism 61bp in the promoter protective against neural tube defect

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS