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FLASH GENE

Symbol

LIPT2

contributors: mct - updated : 20-09-2017

HGNC name	lipoyl(octanoyl) transferase 2
HGNC id	37216

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NELABA encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Location	11q13.4      Physical location : 74.202.923 - 74.204.755
EC.number	2.3.1.181

DNA

TYPE	functioning gene
STRUCTURE	3.25 kb     2 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_001144869 2 - 2330 NP_001138341 - 231 - 2017 28628643 NM_001329941 - - 2368 NP_001316870 - 207 - 2017 28628643 NM_001329942 - - 2101 NP_001316871 - 118 - 2017 28628643

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

31 AAs of the N-terminus of LIPT2 represent a mitochondrial targeting sequence and inhibition of the transit of LIPT2 to the mitochondrion results in apoptotic cell death

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix

basic FUNCTION	involved in the post-translational modification of key energy metabolism enzymes
	LIPT2 and LIAS are involved in the lipoylation of GCS H protein

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NELABA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS