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6307 MSMO1

6307

MSMO1

methylsterol monooxygenase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition methylsterol monooxygenase 1

研究结论

Date Results Publications
2020-12-19 13:44:00 New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis. 33161406
2014-04-19 11:07:00 SC4MOL is situated within the psoriasis susceptibility locus PSORS9, and may be a genetic risk factor for common skin conditions. [review] 24144731
2013-06-22 10:13:00 variants in/near SC4MOL, were associated with FI and IR in this cohort of African Amer 22791750
2011-04-30 10:35:00 human SC4MOL encodes a methyl sterol oxidase that may have a role in psoriasiform dermatitis, microcephaly, and developmental delay 21285510
2008-09-24 21:30:00 Observational study of gene-disease association. (HuGE Navigator) 18660489

名称对应

Type IDs
Synonymous DESP4, ERG25, MCCPD, SC4MOL
Gene
UniProtKB-ID: MSMO1_HUMAN
UniprotKB: Q15800
UniParc: UPI000012A0D3, UPI0000509F07
EMBL: BC107879, CH471056, AC012504, U60205, AK292418, U93162, BC010653, AK295432
Ensembl: ENSG00000052802
KO: hsa:6307
Nucleutide sequences
EMBL-CDS: AAC50587.1, BAH12066.1, AAI07880.1, BAF85107.1, EAX04821.1, AAH10653.1, AAB81566.1, EAX04820.1
Ensembl_TRS: ENST00000261507, ENST00000393766
Protein sequencees
Ensembl_PRO: ENSP00000377361, ENSP00000261507
RefSeq: NP_001017369.1, NP_006736.1, XP_005263233.1
Others
UniRef100: UniRef100_Q15800
UniRef90: UniRef90_Q15800
UniRef50: UniRef50_Q15800
UniGene: Hs.105269
CCDS: CCDS43280.1, CCDS3809.1

全选

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