SLC9A6 - solute carrier family 9 member A6 Gene

Homo sapiens

Also known as MRSA; NHE6; MRXSCH

Gene ID: 10479 | Gene type: protein coding

About SLC9A6

Cytogenetic location: Xq26.3 Genomic coordinates (GRCh38): X:135,973,837-136,047,269 (from NCBI)

This gene has 22 transcripts (splice variants), 276 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 26.2), adrenal (RPKM 4.9) and 23 other tissues.

Summary

This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic cognitive disability, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

SLC9A6 Products(10)

mRNA	Protein	Name
NM_001042537.2	NP_001036002.1	sodium/hydrogen exchanger 6 isoform a precursor
NM_001177651.2	NP_001171122.1	sodium/hydrogen exchanger 6 isoform c
NM_001330652.2	NP_001317581.1	sodium/hydrogen exchanger 6 isoform d
NM_001379110.1	NP_001366039.1	sodium/hydrogen exchanger 6 isoform 5
NM_001400909.1	NP_001387838.1	sodium/hydrogen exchanger 6 isoform c
NM_001400910.1	NP_001387839.1	sodium/hydrogen exchanger 6 isoform c
NM_001400911.1	NP_001387840.1	sodium/hydrogen exchanger 6 isoform c
NM_001400912.1	NP_001387841.1	sodium/hydrogen exchanger 6 isoform c
NM_001400913.1	NP_001387842.1	sodium/hydrogen exchanger 6 isoform d
NM_006359.3	NP_006350.1	sodium/hydrogen exchanger 6 isoform b precursor

SLC9A6 Protein Structure

Na_H_Exchanger

0
200
400
600
669 a.a.

Protein Preferred Names

Protein Names

sodium/hydrogen exchanger 6

Na(+)/H(+) exchanger 6

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type

Mental Retardation, X-Linked, Syndromic, Christianson Type	MRXSCH
Angelman-Like Syndrome, X-Linked	Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome
Intellectual Developmental Disorder, X-Linked Syndromic, Christianson Type	Mrxs-Christianson
X-Linked Angelman-Like Syndrome	Mental Retardation Microcephaly Epilepsy And Ataxia Syndrome

Christianson Syndrome

X-Linked Angelman-Like Syndrome	X-Linked Intellectual Disability, South African Type
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome	Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome
Mental Retardation, X-Linked Syndromic, Christianson Type	Mrxsch
Angelman-Like Syndrome X-Linked	Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome
Intellectual Disability X-Linked Syndromic Christianson Type	Mrxs Christianson
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy	Angelman-Like Syndrome, X-Linked
Intellectual Deficit, X-Linked, South African Type	Mental Retardation X-Linked, South African Type
Mental Retardation, X-Linked, Syndromic, Christianson Type

Esotropia

Convergence In Manifest Squint	Crossed Eyes
Internal Strabismus	Convergent Concomitant Strabismus
Convergent Squint	Convergent Strabismus
Cross-Eye

Enophthalmos

Choreatic Disease

Chorea

Hereditary Chorea

Pectus Excavatum

Funnel Chest

Congenital Pectus Excavatum

Scoliosis

Angelman Syndrome

AS	Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly	Puppetlike Syndrome

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type

MRXSBL	Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance	Mental Retardation, X-Linked 60, Formerly
Mrx60, Formerly	Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type
Mrx60	Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Deafness, Dystonia, And Cerebral Hypomyelination

Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	DDCH
Cadds	Severe Motor And Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome
Contiguous Abcd1 Dxs1357e Deletion Syndrome	Zellweger-Like Contiguous Gene Deletion Syndrome
Contiguous Abcd1/Dxs1375e Deletion Syndrome	Deafness, Dystonia, Cerebral Hypomyelination
Contiguous Abcd1-Dxs1375e Deletion Syndrome

Mowat-Wilson Syndrome

MOWS	Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease
Hirschsprung Disease-Mental Retardation Syndrome	Mowat-Wilson Syndrome Due To Monosomy 2q22
Hirschsprung Disease Mental Retardation Syndrome	Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease
Hirschsprung Disease - Intellectual Disability Syndrome	Hirschsprung Disease Intellectual Disability Syndrome
Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease	Mws
Hirschsprung Disease-Intellectual Disability Syndrome	Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion
Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)	Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22
Mowat-Wilson Syndrome Due To 2q22 Microdeletion	Mowat-Wilson Syndrome Due To Del(2)Q(22)
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Mutism

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Syndromic Intellectual Disability

Pitt-Hopkins Syndrome

PTHS	Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
Mental Retardation, Syndromal, With Intermittent Hyperventilation	Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea
Pitt Hopkins Syndrome	Phs
Encephalopathy Severe Epileptic With Autonomic Dysfunction

Generalized Epilepsy With Febrile Seizures Plus, Type 2

Febrile Seizures, Familial, 3a	GEFSP2
GEFS+2	Generalized Epilepsy With Febrile Seizures Plus 2
Gefs+, Type 2	Generalised Epilepsy With Febrile Seizures Plus 2
Generalised Epilepsy With Febrile Seizures Plus Type 2	Generalized Epilepsy With Febrile Seizures Plus Type 2
FEB3A	Familial Febrile Convulsions 3
Gefs+ Type 2	Epilepsy, Generalized, With Febrile Seizures Plus, Type 2
Febrile Convulsions, Familial, 3a

Epilepsy With Generalized Tonic-Clonic Seizures

Tonic-Clonic Epilepsy	Epileptic Seizures, Tonic-Clonic
Grand Mal Epilepsy	Epilepsy, Tonic-Clonic

Complex Partial Epilepsy

Epilepsy, Complex Partial	Complex Partial Epileptic Seizure
Epilepsy, Psychomotor	Psychomotor Epilepsy

Opitz-Kaveggia Syndrome

Fg Syndrome	Fgs1
Fgs	Keller Syndrome
OKS	Fg Syndrome 1
Fg Syndrome Type 1	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Speech Disorder

Speech Disorders

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

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-RS13345	SLC9A6 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC9A6	RGD	RGD:1563582
Macaca mulatta	SLC9A6	VGNC	VGNC:77642
Canis familiaris	SLC9A6	VGNC	VGNC:46488
Mus musculus	SLC9A6	MGD	MGI:2443511
Bos taurus	SLC9A6	VGNC	VGNC:34945
Felis catus	SLC9A6	VGNC	VGNC:65437

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