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FLASH GENE

Symbol

C19orf12

contributors: mct/shn - updated : 19-07-2013

HGNC name	chromosome 19 open reading frame 12
HGNC id	25443

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to 1600014C10Rik, Mus musculus
	ortholog to zgc:112052, Danio rerio
	ortholog to C19H19orf12, Pan troglodytes

Homologene

FAMILY

CATEGORY

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	localizes predominantly to mitochondria
	co-localized closely with the ER marker calreticulin in COS7 cells, while in some other cells C19orf12 appeared to localize more to mitochondria

basic FUNCTION

possible role for C19orf12 in lipid homeostasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NBIA4 , SPG43

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

subcellular distribution alteration of C19orf12 in cells expressing a Myc-tagged C19orf12 containing the SPG43 mutation p.Ala63Pro. The mutant fusion protein is located throughout the cytoplasm in a majority of cells