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FLASH GENE

Symbol

TIMM8A

contributors: mct - updated : 24-12-2013

HGNC name	translocase of inner mitochondrial membrane 8 homolog A (yeast)
HGNC id	11817

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ADS ataxia-dementia syndrome DDOA deafness-dystonia-optic atrophy syndrome JS opticoacoustic nerve atrophy with dementia
Location	Xq22.1      Physical location : 100.600.643 - 100.603.957
Synonym name	deafness and dystonia peptide
	X-linked deafness dystonia protein
	mitochondrial import inner membrane translocase subunit Tim8 A
Synonym symbol(s)	DDP, MT1, TIM8A, DXS1274E, MTS, DDP1, DFN1, DDTS, TIM8

DNA

TYPE	functioning gene
STRUCTURE	28.41 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_001145951 2 - 569 NP_001139423 5.18 48 - - NM_004085 2 - 1459 NP_004076 10.9 97 - -

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 Nervous brain       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	highly, in brain and lowly in liver and kidney

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a largely alpha-helical structure, one on the N terminal region terminated by two cysteine residues, one central comprising two cysteine residues
	a third one and separated from each other by random coil and suggesting a hairpin of helices held together by the cysteine coodination of the Zn2+ ion

conjugated

HOMOLOGY

interspecies	ortholog to murine Timm8a
	homolog to yeast,translocase of inner mitochondrial protein 8,A
	ortholog to yeast S.cerevisiae Tim8p

intraspecies

paralog to TIM8B

Homologene

FAMILY

mitochondrial intermembrane proteins family

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,interspace
text	intermembrane transport in mitochondria

basic FUNCTION

involved in the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , nervous system , mitochondrial transport , neurogenesis

text	putatively involved in neurologic development

PATHWAY

metabolism

signaling

a component	component of the TIM complex
	TIM22 protein import pathway consists of two intermembrane space chaperone complexes, the TIMM9-TIMM10 and TIMM8A-TIMM13 complexes (Hasson 2010)

INTERACTION

DNA

RNA

small molecule

protein	interactig with SLC25A12 and SLC25A13 (substrates for the TIMM8A/TIMM13 complex)
	interacting with STAM in the cytoplasm or at the mitochondrial outer membrane

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ADS , JS , DDOA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS