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FLASH GENE

Symbol

MUT

contributors: mct - updated : 23-04-2013

HGNC name	methylmalonyl Coenzyme A mutase
HGNC id	7526

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MUT hyperglycinemia, ketotic methylmalonic acidemia
Location	6p12.3      Physical location : 49.398.073 - 49.431.041
Synonym symbol(s)	MCM
EC.number	5.4.99.2

DNA

TYPE	functioning gene
STRUCTURE	31.00 kb     13 Exon(s)    1 Copie(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map

see PKHD1

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type

widely

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 Cardiovascular heart         Digestive liver           mouth gingiva       Nervous brain         Respiratory lung

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 32 leader sequence A
	N terminal CoA binding domain
	TIM-barrel domain (beta/alpha 8 barrel domain)
	a C-terminal domain 5 cofactor-binding domain with a large beta sheet consisting of five parallel strands

mono polymer

homomer , dimer

isoforms

Precursor

translocated in the mitochondria and cleaved by a matrix peptidase to form the mature subunit (718 AA)

HOMOLOGY

Homologene

FAMILY

methylmalonyl-Coa mutase family

CATEGORY

enzyme

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

basic FUNCTION	conversion of L-methylmalonyl-CoA to succinyl-CoA in the propionyl-CoA catabolic pathway toward the Krebs cycle
	involved in the degradation of several amino acids (isoleucine, valine, methionine and threonine) odd-chain fatty acids and cholesterol via propionyl-CoA
	to the tricarboxylic acid cycle

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid , organic acid

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	adenosylcobalamin (vitamin B12 dependent)

protein	MMAA exhibits GTPase activity that is modulated by MUT
	MMAA plays dual roles in MUT activity

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MUT

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS