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79152 FA2H

79152

FA2H

fatty acid 2-hydroxylase

protein-coding

Homo sapiens

基因描述

Type Description
Definition fatty acid 2-hydroxylase

研究结论

Date Results Publications
2021-03-13 13:24:00 Fatty acid 2-hydroxylase (FA2H) as a stimulatory molecule responsible for breast cancer cell migration. 32798015
2020-06-27 11:15:00 High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma 31409741
2020-06-13 11:39:00 Hereditary spastic paraplegia type 35 caused by the FA2H mutation in a family from Mali has been described. 31087769
2019-09-28 13:25:00 Study reports the clinical, neuroimaging, biochemical, and molecular findings in three novel unrelated patients with new mutations in FA2H, comparing their features with those previously reported in autosomal recessive spastic paraplegia 35 (SPG35). 29423566
2019-02-16 12:31:00 Novel variant c.130C>T (p.Pro44Ser) in homozygous status in exon 1 of the FA2H gene is described in a Czech patient with SPG35. 30446360

名称对应

Type IDs
Synonymous FAAH, FAH1, FAXDC1, SCS7, SPG35
Gene
UniProtKB-ID: FA2H_HUMAN
UniprotKB: Q7L5A8
UniParc: UPI000191518F, UPI000013C77C
EMBL: AK303878, AC004685, AK058016, BC002679, CH471114, BC017049, BC004263, AC009132, AJ278219
Ensembl: ENSG00000103089
KO: hsa:79152
Nucleutide sequences
EMBL-CDS: AAH04263.2, EAW95678.1, AAC23496.1, AAH17049.2, BAH14072.1, BAB71632.1, CAC20436.1, AAH02679.2
Ensembl_TRS: ENST00000219368
Protein sequencees
Ensembl_PRO: ENSP00000219368
RefSeq: XP_011521621.1, NP_077282.3, XP_011521619.1
Others
UniRef100: UniRef100_Q7L5A8
UniRef90: UniRef90_Q7L5A8
UniRef50: UniRef50_Q7L5A8
UniGene: Hs.461329
CCDS: CCDS10911.1

全选

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