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FLASH GENE

Symbol

LHX1

contributors: mct - updated : 25-11-2013

HGNC name	LIM homeobox 1
HGNC id	6593

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two N terminal cysteine-rich LIM/double zinc finger motifs
	an helix-turn-helix, DNA binding domain (homeodomain)
	a proline rich region

conjugated

HOMOLOGY

Homologene

FAMILY

CATEGORY

transcription factor , protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in transcriptional regulation of neural and lymphoid cells
	playing an essential role for controlling Purkinje cell differentiation in the developing mammalian cerebellum
	required for normal organogenesis, including nephrogenesis, by regulating cell movements, differentiation and growth
	acts as an oncogene in cancer cells
	essential role in driving specification of the entire kidney field from the intermediate mesoderm

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development , neurogenesis

text	organogenesis; head organization

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding (homeodomain)

RNA

small molecule

protein

OTX2 regulates DKK1 and LHX1 activity in the anterior mesendoderm

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL17Q12

Susceptibility

Variant & Polymorphism

Candidate gene	for aplasia of mullerian ducts
	for neurodevelopmental disorders in patients with del 17q12
Marker
Therapy target
	System Type Disorder Pubmed cancer urinary   targeting LHX1 may constitute an innovative therapeutic intervention in human clear cell renal cell carcinoma

ANIMAL & CELL MODELS

Mice with targeted mutation in the Hip1 gene (Hip1) develop a neurological phenotype characterized by failure to thrive, tremor, and gait ataxia