NCSTN
(
NM_015331.3
)
sequence variants
(ATAG1874, APH2, KIAA0253)
Editor(s):
Isabella CECCHERINI
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A to H
genes
ADA2
ADAM17
ALPK1
AP1S3
CARD14
CDC42
CEBPE
COPA
ELF4
F12
HCK
I to L
genes
IKBKG
IL1R1
IL1RN
IL36RN
LACC1
LPIN2
LYN
M to O
genes
MEFV
MVK
NCSTN
NLRC4
NLRP1
NLRP12
NLRP3
NLRP7
NOD2
OTULIN
P to Q
genes
PLCG1
PLCG2
POMP
PSMA3
PSMB10
PSMB4
PSMB8
PSMB9
PSMG2
PSTPIP1
R to S
genes
RBCK1
RELA
RIPK1
SAMD9L
SH3BP2
SLC29A3
STING1
T to Z
genes
TNFAIP3
TNFRSF11A
TNFRSF1A
TRAP1
TRNT1
UBA1
WDR1
Close
A to H genes
ADA2
ADAM17
ALPK1
AP1S3
CARD14
CDC42
CEBPE
COPA
ELF4
F12
HCK
I to L genes
IKBKG
IL1R1
IL1RN
IL36RN
LACC1
LPIN2
LYN
M to O genes
MEFV
MVK
NCSTN
NLRC4
NLRP1
NLRP12
NLRP3
NLRP7
NOD2
OTULIN
P to Q genes
PLCG1
PLCG2
POMP
PSMA3
PSMB10
PSMB4
PSMB8
PSMB9
PSMG2
PSTPIP1
R to S genes
RBCK1
RELA
RIPK1
SAMD9L
SH3BP2
SLC29A3
STING1
T to Z genes
TNFAIP3
TNFRSF11A
TNFRSF1A
TRAP1
TRNT1
UBA1
WDR1
General web sites
LRG
LRG_223
DNA
NC_000001.11
GRCh38.p13
ENSG00000162736
GRCh38.p13
NC_000001.10
GRCh37.p13
ENSG00000162736
GRCh37.p13
NG_027935.1
mRNA
NM_015331.3
ENST00000294785.10
CCDS
CCDS1203.1
Protein
NP_056146.1
ENSP00000294785.5
NCBI Gene
23385
OMIM Gene
605254
OMIM Disease
142690
Nomenclature
HGNC
PubMed of the initial paper:
First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome.
Duchatelet S & al
Is SAPHO Syndrome Linked to PASH Syndrome and Hidradenitis Suppurativa by Nicastrin Mutation? A Case Report.
Li C & al
Other links:
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