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215 ABCD1

215

ABCD1

ATP binding cassette subfamily D member 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATP binding cassette subfamily D member 1

研究结论

Date Results Publications
2020-12-05 12:59:00 Proteasome-dependent protein quality control of the peroxisomal membrane protein Pxa1p. 32416190
2020-06-13 10:51:00 A state-wide Minnesota newborn screening for X-linked adrenoleukodystrophy revealed ABCD1 mutations in affected newborns and their relatives. 31074578
2020-04-18 10:44:00 ABCD1 gene mutation is associated with X-linked adrenoleukodystrophy. 31665121
2019-05-07 17:47:00 Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature. 25044748
2019-03-02 12:37:00 Description of a new clinical variant of adult adrenomyeloneuropathy that is possibly caused by a novel ABCD1 gene mutation. 29966135

名称对应

Type IDs
Synonymous ABC42, ALD, ALDP, AMN
Gene
UniProtKB-ID: ABCD1_HUMAN
UniprotKB: P33897
UniParc: UPI0000000DF5
EMBL: U52111, BC025358, Z31008, Z31007, Z31348, Z31010, Z31006, Z21876, Z31009, BC015541
Ensembl: ENSG00000101986
KO: hsa:215
Nucleutide sequences
EMBL-CDS: AAH15541.1, CAA83230.1, CAA79922.1, AAH25358.1
Ensembl_TRS: ENST00000218104
Protein sequencees
Ensembl_PRO: ENSP00000218104
RefSeq: NP_000024.2
Others
UniRef100: UniRef100_P33897
UniRef90: UniRef90_P33897
UniRef50: UniRef50_P33897
UniGene: Hs.159546
CCDS: CCDS14728.1

全选

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研究热度

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