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FLASH GENE

Symbol

SLC25A18

contributors: mct/npt - updated : 08-03-2017

HGNC name	solute carrier family 25, (mitochondrial carrier), member 18
HGNC id	10988

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	30.46 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	see ATP6V1E

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_031481 11 - 2087 NP_113669 - 315 - Footz (2001) variant 3 - - 3600 isoform 3 - - adult liver Footz (2001) variant 2 - - 2300 isoform 2 - - adult and fetal brain Footz (2001)

EXPRESSION

Type

constitutive of

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 Digestive liver

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six membrane spanning domains
	three tandemly repeated mitochondrial carrier protein domains
	three solcar repeats

HOMOLOGY

intraspecies	homolog to SLC25A13 (citrin)
	homolog to Aralar 1 and 2

Homologene

FAMILY

mitochondrial carrier family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,nuclear envelope

basic FUNCTION

mediates solute transport across the inner mitochondrial membrane, a process that is still poorly characterized regarding both the mechanisms and proteins implicated (Casimir 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)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   amplification     of the genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for CES, may be responsible for anorectal, renal and preauricular anomalies in patients with Cat eye syndrome (CES)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS