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201562 HACD2

201562

HACD2

3-hydroxyacyl-CoA dehydratase 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition 3-hydroxyacyl-CoA dehydratase 2

研究结论

Date Results Publications
2017-09-30 10:43:00 Mutations in HACD1 can result in myopathies in humans; knockout mice lacking Hacd1 develop myopathic phenotypes. Data (including data from studies using knockout mice and cultured cells from knockout mice) suggest that HACD1 and HACD2 exhibit overlapping substrate specificities and thus appear to represent redundant activities in skeletal muscle. 28784662
2010-09-15 22:05:00 Observational study of gene-disease association. (HuGE Navigator) 20677014
2010-06-30 22:06:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614
2010-01-21 00:00:00 Data describe a novel human member of the protein tyrosine phosphatase-like B (PTPLB) family, an integral protein of the endoplasmic reticulum membrane, as a BAP31-interacting protein. 15024066

名称对应

Type IDs
Synonymous PTPLB
Gene
UniProtKB-ID: HACD2_HUMAN
UniprotKB: Q6Y1H2
UniParc: UPI0000160B26
EMBL: BC049369, AC025571, AC020631, AK289983, AY191814, AC084039, AC023165, BC060839
Ensembl: ENSG00000206527
KO: hsa:201562
Nucleutide sequences
EMBL-CDS: AAH49369.1, AAP20101.1, AAH60839.1, BAF82672.1
Ensembl_TRS: ENST00000383657
Protein sequencees
Ensembl_PRO: ENSP00000373153
RefSeq: NP_940684.1, NP_001316716.1, XP_016861345.1, NP_001316712.1, NP_001316713.1, NP_001316715.1, XP_024309155.1
Others
UniRef100: UniRef100_Q6Y1H2
UniRef90: UniRef90_Q6Y1H2
UniRef50: UniRef50_Q6Y1H2
UniGene: Hs.705480
CCDS: CCDS46895.1

全选

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研究热度

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