Type | Description |
---|---|
Definition | ganglioside induced differentiation associated protein 1 |
Date | Results | Publications |
---|---|---|
2021-02-02 13:24:00 | Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily. | 32274853 |
2021-02-02 13:23:00 | Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model. | 32183277 |
2020-11-21 13:24:00 | [Identification of a novel c.1A>G variant of GDAP1 gene in a pedigree affected with autosomal recessive fibula atrophy]. | 33179230 |
2020-10-10 12:57:00 | Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. | 31852984 |
2019-12-14 11:57:00 | Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K is caused by homozygous or compound heterozygous mutation in the GDAP1 gene (606598) on chromosome 8q. | 30804591 |
Type | IDs |
---|---|
Synonymous | CMT4, CMT4A, CMTRIA |
Gene |
UniProtKB-ID:
GDAP1_HUMAN
UniprotKB:
Q8TB36
UniParc:
UPI000006D32C,
UPI00001AE62B
EMBL:
AC103952,
AB551556,
Y17849,
AB551557,
BC024939,
AK292572
Ensembl:
ENSG00000104381
KO:
hsa:54332
|
Nucleutide sequences |
EMBL-CDS:
BAJ65578.1,
AAH24939.1,
CAA76892.1,
BAJ65577.1,
BAF85261.1
Ensembl_TRS:
ENST00000220822,
ENST00000434412
|
Protein sequencees |
Ensembl_PRO:
ENSP00000417006,
ENSP00000220822
RefSeq:
NP_001349858.1,
NP_001349859.1,
NP_001349861.1,
NP_001035808.1,
NP_001349860.1,
XP_016869075.2,
NP_061845.2
|
Others |
UniRef100:
UniRef100_Q8TB36
UniRef90:
UniRef90_Q8TB36
UniRef50:
UniRef50_Q8TB36
UniGene:
Hs.168950
CCDS:
CCDS34911.1,
CCDS47877.1
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
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Refseq |
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Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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