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FLASH GENE

Symbol

SLC25A46

contributors: mct - updated : 01-10-2020

HGNC name	solute carrier family 25, member 46
HGNC id	25198

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q22.1      Physical location : 110.074.753 - 110.098.482
Synonym symbol(s)	HMSN6B, DKFZp686G02226

DNA

TYPE	functioning gene
STRUCTURE	27.01 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001303250 8 - 4452 NP_001290179 - 327 - 2006 16949250 NM_138773 8 - 4745 NP_620128 - 418 - 2006 16949250 NM_001303249 8 - 4502 NP_001290178 - 337 - 2006 16949250

EXPRESSION

Type	ubiquitous

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 Endocrine adrenal gland       highly Nervous brain hindbrain     highly   brain basal nuclei corpus callosum   highly   brain diencephalon epithalamus   highly   spinal cord       highly Respiratory respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to Ugo1

Homologene

FAMILY

CATEGORY

transport carrier

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

basic FUNCTION	Ugo1-like protein,and a modified carrier protein that has been recruited to the outer mitochondrial membrane and interacts with the inner membrane remodeling protein mitofilin (IMMT)
	plays a role in a mitochondrial/ER pathway that facilitates lipid transfer, and link altered mitochondrial dynamics to early-onset neurodegenerative disease and cell fate decisions
	may play an important role in mitochondrial dynamics by mediating mitochondrial fission

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	integral outer membrane protein that interacts with MFN2, OPA1, and the mitochondrial contact site and cristae organizing system (MICOS) complex
	SLC25A46 interacts with the inner membrane remodeling protein mitofilin (IMMT)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function causes degeneration in neurons by affecting mitochondrial dynamics and energy production constitutional     --low   depletion of SLC25A46a leads to mitochondrial defects followed by an aberrant synaptic morphology, resulting in locomotive defects and learning disability

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mice lacking SLC25A46 displayed severe ataxia, mainly caused by degeneration of Purkinje cells