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เข้าสู่ระบบ
การตั้งค่า
บริจาคให้วิกิพีเดีย
เกี่ยวกับวิกิพีเดีย
ข้อปฏิเสธความรับผิดชอบ
ค้นหา
แม่แบบ
:
โรคของไอออนแชนเนล
ภาษาอื่น
เฝ้าดู
แก้ไข
ด
ค
ก
Genetic disorder
, membrane:
Channelopathy
Calcium channel
Voltage-gated
CACNA1A
(
Familial hemiplegic migraine 1
,
Episodic ataxia 2
,
Spinocerebellar ataxia type-6
)
·
CACNA1C
(
Timothy syndrome
,
Brugada syndrome 3
,
Long QT syndrome 8
)
·
CACNA1F
(
Ocular albinism 2
,
CSNB2A
)
·
CACNA1S
(
Hypokalemic periodic paralysis 1
,
Thyrotoxic periodic paralysis 1
)
·
CACNB2
(
Brugada syndrome 4
)
Ligand gated
RYR1
(
Malignant hyperthermia
,
Central core disease
)
·
RYR2
(
CPVT1
,
ARVD2
)
Sodium channel
Voltage-gated
SCN1A
(
Familial hemiplegic migraine 3
,
GEFS+ 2
,
Febrile seizure 3A
)
·
SCN1B
(
Brugada syndrome 6
,
GEFS+ 1
)
·
SCN4A
(
Hypokalemic periodic paralysis 2
,
Hyperkalemic periodic paralysis
,
Paramyotonia congenita
,
Potassium-aggravated myotonia
)
·
SCN4B
(
Long QT syndrome 10
)
·
SCN5A
(
Brugada syndrome 1
,
Long QT syndrome 3
)
·
SCN9A
(
Erythromelalgia
,
Febrile seizure 3B
,
Paroxysmal extreme pain disorder
,
Congenital insensitivity to pain
)
Constitutively active
SCNN1B
/
SCNN1G
(
Liddle's syndrome
)
·
SCNN1A
/
SCNN1B
/
SCNN1G
(
Pseudohypoaldosteronism 1AR
)
Potassium channel
Voltage-gated
KCNA1
(
Episodic ataxia 1
)
·
KCNA5
(
Familial atrial fibrillation 7
)
·
KCNC3
(
Spinocerebellar ataxia type-13
)
·
KCNE1
(
Jervell and Lange-Nielsen syndrome
,
Long QT syndrome 5
)
·
KCNE2
(
Long QT syndrome 6
)
·
KCNE3
(
Brugada syndrome 5
)
·
KCNH2
(
Short QT syndrome
)
·
KCNQ1
(
Jervell and Lange-Nielsen syndrome
,
Romano-Ward syndrome
,
Short QT syndrome
,
Long QT syndrome 1
,
Familial atrial fibrillation 3
)
·
KCNQ2
(
BFNS1
}
Inward-rectifier
KCNJ1
(
Bartter syndrome 2
)
·
KCNJ2
(
Andersen-Tawil syndrome
,
Long QT syndrome 7
,
Short QT syndrome
)
·
KCNJ11
(
TNDM3
)
·
KCNJ18
(
Thyrotoxic periodic paralysis 2
)
Chloride channel
CFTR
(
Cystic fibrosis
,
Congenital absence of the vas deferens
)
·
CLCN1
(
Thomsen disease
,
Myotonia congenita
)
·
CLCN5
(
Dent's disease
)
·
CLCN7
(
Osteopetrosis A2, B4
·
BEST1
(
Vitelliform macular dystrophy
)
·
CLCNKB
(
Bartter syndrome 3
)
TRP channel
TRPC6
(
FSGS2
)
·
TRPML1
(
Mucolipidosis type IV
)
Connexin
GJA1
(
Oculodentodigital dysplasia
,
Hallermann–Streiff syndrome
,
Hypoplastic left heart syndrome
)
·
GJB1
(
Charcot–Marie–Tooth disease X1
)
·
GJB2
(
Keratitis–ichthyosis–deafness syndrome
,
Ichthyosis hystrix
,
Bart–Pumphrey syndrome
,
Vohwinkel syndrome
)
·
GJB3
/
GJB4
(
Erythrokeratodermia variabilis
,
Progressive symmetric erythrokeratodermia
)
·
GJB6
(
Clouston's hidrotic ectodermal dysplasia
)
Porin
AQP2
(
Nephrogenic diabetes insipidus 2
)
see also
ion channels
B
structural (
perx
,
skel
,
cili
,
mito
,
nucl
,
sclr
)
·
DNA/RNA/protein synthesis (
drep
,
trfc
,
tscr
,
tltn
)
·
membrane (
icha
,
slcr
,
atpa
,
abct
,
othr
)
·
transduction (
iter
,
csrc
,
itra
),
trfk