SLC7A8 - solute carrier family 7 member 8 Gene

Homo sapiens

Also known as LAT2; LPI-PC1

Gene ID: 23428 | Gene type: protein coding

About SLC7A8

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,125,295-23,183,660 (from NCBI)

This gene has 13 transcripts (splice variants), 258 orthologues and 12 paralogues. Broad expression in kidney (RPKM 77.2), prostate (RPKM 18.0) and 18 other tissues.

Summary

Enables several functions, including neutral amino acid transmembrane transporter activity; thyroid hormone transmembrane transporter activity; and toxin transmembrane transporter activity. Involved in L-alanine import across plasma membrane; L-leucine import across plasma membrane; and thyroid hormone transport. Located in plasma membrane. Part of basolateral plasma membrane and microvillus membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC7A8 Products(4)

mRNA	Protein	Name
NM_001267036.1	NP_001253965.1	large neutral amino acids transporter small subunit 2 isoform c
NM_001267037.2	NP_001253966.1	large neutral amino acids transporter small subunit 2 isoform d
NM_012244.4	NP_036376.2	large neutral amino acids transporter small subunit 2 isoform a
NM_182728.3	NP_877392.1	large neutral amino acids transporter small subunit 2 isoform b

SLC7A8 Protein Structure

AA_permease_2

0
100
200
300
400
500
535 a.a.

Protein Preferred Names

Protein Names

large neutral amino acids transporter small subunit 2

L-type amino acid transporter 2

Related Diseases

Diseases

Alias

Lysinuric Protein Intolerance

LPI	Dibasic Amino Aciduria Ii
Hyperdibasic Aminoaciduria	Dibasic Aminoaciduria 2
Dibasicamino Aciduria Ii	Congenital Lysinuria
Lpi - Lysinuric Protein Intolerance

Cystinuria

CSNU	Cystinuria Type B
Cystinuria Type A	Cystinuria, Type I, Formerly
Csnu1, Formerly	Cystinuria, Type Ii, Formerly
Cystinuria, Type Iii, Formerly	Csnu3, Formerly
Cystinuria, Type Non-I, Formerly	Cystinuria-Lysinuria
Cystinuria-Lysinuria Syndrome	Csnu1
Csnu3	Cystinuria 1
Cystinuria Type A/B	Cystinuria Type I
Cystinuria Type Ii	Cystinuria Type Iii
Cystinuria Type Non-I	Cystinuria, Type A/B
Cystinuria Type 1	Cystinuria - Lysinuria
Csnu - [Cystinuria]	Cystine Disease

Granulomatous Disease, Chronic, Autosomal Recessive, 2

Chronic Granulomatous Disease Due To Deficiency Of Ncf-2	CGD2
Ncf2 Deficiency	P67-Phox Deficiency
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii	Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii
Granulomatous Disease, Chronic, Due To Ncf2 Deficiency	Neutrophil Cytosol Factor 2 Deficiency
Chronic Granulomatous Disease 2, Autosomal Recessive	Autosomal Recessive Chronic Granulomatous Disease 2
Cdg2	Deficiency Of Ncf2
Deficiency Of P67-Phox	Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii
Deficiency Of Neutrophil Cytosol Factor 2	Avellino Corneal Dystrophy

Allan-Herndon-Dudley Syndrome

AHDS	Allan-Herndon Syndrome
Monocarboxylate Transporter 8 Deficiency	MCT8 DEFICIENCY
Mental Retardation, X-Linked, With Hypotonia	Triiodothyronine Resistance
T3 Resistance	Mental Retardation And Muscular Atrophy
Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency	Intellectual Disability And Muscular Atrophy
Monocarboxylate Transporter-8 Deficiency	T3 Resisitence
Triiodothyronine Resistence	X-Linked Intellectual Disability With Hypotonia
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency	Monocarboxylate Transporter 8 Deficiency
X-Linked Intellectual Disability-Hypotonia Syndrome

Hartnup Disorder

Hartnup Disease	HND
Neutral 1 Amino Acid Transport Defect	Neutral Amino Acid Transport Defect
Deficiency Of Tryptophan Oxygenase	Hartnup'S Disease
Aminoaciduria, Hartnup Type	Disorder Of Neutral Amino Acid Transport

Persistent Fetal Circulation Syndrome

Persistent Fetal Circulation	Fetal Circulation
Persistent Pulmonary Hypertension Of The Newborn	Congenital Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Persistent Foetal Circulation	Persistent Foetal Circulation Syndrome
Pfc - [Persistent Fetal Circulation] Syndrome	Pphn - [Persistent Pulmonary Hypertension Of The Newborn]
Newborn Pulmonary Hypertension	Primary Pulmonary Hypertension Of Newborn

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

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-RS13335	SLC7A8 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC7A8	RGD	RGD:619904
Mus musculus	SLC7A8	MGD	MGI:1355323
Macaca mulatta	SLC7A8	VGNC	VGNC:77632
Canis familiaris	SLC7A8	VGNC	VGNC:46478
Felis catus	SLC7A8	VGNC	VGNC:80842
Bos taurus	SLC7A8	VGNC	VGNC:34933

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