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FLASH GENE

Symbol

TUBB4A

contributors: mct - updated : 05-06-2013

HGNC name	tubulin, beta 4A class IVa
HGNC id	20774

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DYT4 dystonia type 4 HABC hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum
Location	19p13.3      Physical location : -
Synonym name	tubulin, beta, 5
	tubulin beta-4 chain
Synonym symbol(s)	TUBB5, beta-5, TUBB4

DNA

TYPE	functioning gene
STRUCTURE	8.00 kb     4 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_006087 4 - 2318 NP_006078 49 444 - -

EXPRESSION

Type

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 Homo sapiens Reproductive female system breast mammary gland       male system testis       Skin/Tegument skin         Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central     highly Homo sapiens Nervous peripherous     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

secondary structure

dimer of alpha and beta chains

mono polymer

dimer

HOMOLOGY

Homologene

FAMILY

tubulin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule

basic FUNCTION

major constituent of microtubules, binding two moles of GTP, one at an exchangeable site on the beta chain and one at a nonexchangeable site on the alpha-chain

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HABC , DYT4

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS