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54332 GDAP1

54332

GDAP1

ganglioside induced differentiation associated protein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition ganglioside induced differentiation associated protein 1

研究结论

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

名称对应

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

全选

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