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FLASH GENE

Symbol

SLC25A20

contributors: mct/npt - updated : 05-07-2006

HGNC name	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
HGNC id	1421

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CACT carnitine-acylcarnitine translocase deficiency
Location	3p21.31      Physical location : 48.894.356 - 48.936.402
Synonym name	carnitine/acylcarnitine translocase
	mitochondrial carnitine/acylcarnitine carrier protein
Synonym symbol(s)	CAC, CACT
EC.number	2.3.1.26

DNA

TYPE	functioning gene
STRUCTURE	42.05 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	PPARalpha regulates the expression of SLC25A20 via the peroxisome proliferator responsive element (Tachibana 2009)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000387 9 - 1885

EXPRESSION

Type

widely

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 Cardiovascular heart       highly Digestive liver       highly Endocrine pancreas       lowly Nervous brain       lowly Respiratory lung       lowly Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three tandemly repeated mitochondrial carrier protein domains
	six transmembrane spanning segments
	a distinct motif, RXXPANAAXF, within its six transmembrane alpha-helix (De Lucas 2008)
	three solcar repeats

HOMOLOGY

Homologene

FAMILY

mitochondrial carrier family

CATEGORY

enzyme , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	carnitine/acylcarnitine translocase, (carrier) nuclear encoded protein
	mediating the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway
	key molecule that transfers acylcarnitine esters in . exchange for free carnitine across the mitochondrial membrane in the mitochondrial beta-oxidation (Tachibana 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

mitochondrial transport

text	energy transfer

PATHWAY

metabolism

energetic

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CACT

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS