SLC44A4 - solute carrier family 44 member 4 Gene

Homo sapiens

Also known as CTL4; NG22; TPPT; DFNA72; hTPPT1; C6orf29

Gene ID: 80736 | Gene type: protein coding

About SLC44A4

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,863,192-31,878,997 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 196 orthologues, 4 paralogues and is associated with 2 phenotypes. Biased expression in colon (RPKM 98.7), stomach (RPKM 72.4) and 9 other tissues.

Summary

The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

SLC44A4 Products(3)

mRNA	Protein	Name
NM_001178044.2	NP_001171515.1	choline transporter-like protein 4 isoform 2
NM_001178045.2	NP_001171516.1	choline transporter-like protein 4 isoform 3
NM_025257.3	NP_079533.2	choline transporter-like protein 4 isoform 1

SLC44A4 Protein Structure

Choline_transpo

0
200
400
600
710 a.a.

Protein Preferred Names

Protein Names

choline transporter-like protein 4

testicular tissue protein Li 48

Related Diseases

Diseases

Alias

Deafness, Autosomal Dominant 72

DFNA72

Deafness, Autosomal Dominant, 72

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna	Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Lysosomal Storage Disease

Lysosomal Storage Diseases	Disorder Of Lysosomal Enzyme
Inborn Lysosomal Enzyme Disorder	Lysosomal Storage Metabolism Disorder
Lysosomal Storage Disorder

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

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-RS13254	SLC44A4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLC44A4	VGNC	VGNC:77472
Mus musculus	SLC44A4	MGD	MGI:1917379
Felis catus	SLC44A4	VGNC	VGNC:65374
Bos taurus	SLC44A4	VGNC	VGNC:34878
Canis familiaris	SLC44A4	VGNC	VGNC:46420
Rattus norvegicus	SLC44A4	RGD	RGD:1303167

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