LMX1A - LIM homeobox transcription factor 1 alpha Gene

Homo sapiens

Also known as LMX1; DFNA7; LMX1.1

Gene ID: 4009 | Gene type: protein coding

About LMX1A

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:165,201,867-165,356,715 (from NCBI)

This gene has 4 transcripts (splice variants), 209 orthologues, 20 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

Summary

This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of Insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

LMX1A Products(2)

mRNA	Protein	Name
NM_001174069.2	NP_001167540.1	LIM homeobox transcription factor 1-alpha
NM_177398.4	NP_796372.1	LIM homeobox transcription factor 1-alpha

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25814554	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LMX1A Protein Structure

LIM

Homeobox

0
100
200
300
382 a.a.

Protein Preferred Names

Protein Names

LIM homeobox transcription factor 1-alpha

LIM/homeobox protein 1.1

LMX1A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	LMX1A	Q8TE12	GRB2	Homo sapiens	P62993	Validated Y2H	25814554

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Deafness, Autosomal Dominant 7

DFNA7	Autosomal Dominant Nonsyndromic Deafness 7
Autosomal Dominant Deafness 7	Deafness, Autosomal Dominant, 7
Deafness, Autosomal Dominant, Type 7

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay

CAKUTHED	Doid:0112359
Anomalies, Congenital, Kidney And Urinary Tract Syndrome With/Without Hearing Loss, Abnormal Ears, Or Developmental Delay

Ovarian Mucinous Cystadenocarcinoma

Mucinous Cystadenocarcinoma Of Ovary

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07727	LMX1A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	LMX1A	RGD	RGD:1304784
Canis familiaris	LMX1A	VGNC	VGNC:42728
Macaca mulatta	LMX1A	VGNC	VGNC:74436
Bos taurus	LMX1A	VGNC	VGNC:30943
Mus musculus	LMX1A	MGD	MGI:1888519
Felis catus	LMX1A	VGNC	VGNC:68076

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