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79784 MYH14

79784

MYH14

myosin heavy chain 14

protein-coding

Homo sapiens

基因描述

Type Description
Definition myosin heavy chain 14

研究结论

Date Results Publications
2020-10-31 13:17:00 A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss. 32711451
2019-12-21 11:56:00 We describe the third family carrying the R941L mutation in MYH14, and demonstrate that the R941L mutation impairs non-muscle myosin protein function. To better understand the molecular basis of the peripheral neuropathy phenotype associated with the R941L mutation, which has been hindered by the fact that NMIIC is largely uncharacterized, we have established a previously unrecognized biological role for NMIIC in mediatin 31231018
2019-11-09 10:25:00 confirm faster ADP release from R694N actomyosin mutant, but is not as dramatic as the difference of kinetics of ADP release in the alpha and beta isoforms. 30654937
2019-05-18 10:31:00 a truncation mutation in the cMLCK gene p.Pro639Valfs*15 can be associated with significant impairment of MLC2v phosphorylation and possibly with development of DCM, although a larger study of DCM patients is required to determine the prevalence of this mutation and further strengthen its association with disease development. 30690923
2018-06-02 12:16:00 This is the first identification of mutations in MYH14 as a cause of Anorectal malformations. 28191911

名称对应

Type IDs
Synonymous DFNA4, DFNA4A, FP17425, MHC16, MYH17, NMHC II-C, NMHC-II-C, PNMHH, myosin
Gene
UniProtKB-ID: MYH14_HUMAN, B3KWH4_HUMAN, A1L2Z2_HUMAN
UniprotKB: Q7Z406, B3KWH4, A1L2Z2
UniParc: UPI000041F2B9, UPI0001641C2F, UPI00004A23C9, UPI0000E59250, UPI0000E5924F, UPI0000D4F01A, UPI00002029F3
EMBL: AK125082, BC007877, BC129803, BC004396, AY165122, AC020906, FJ041910, BC000676, AC010515, AY203926, AB111886, BG468611, AC008655, AB290169, AK023943, CR936653, BC018933
Ensembl: ENSG00000105357
KO: hsa:79784
Nucleutide sequences
EMBL-CDS: BAB14735.1, AAP34449.1, AAH04396.1, BAG06723.1, BAC98374.1, AAO39147.1, AAH07877.2, AAH18933.2, ACM78630.1, AAH00676.2, CAI56791.1, BAG54136.1, AAI29804.1
Gene_ORFName: FP17425
Ensembl_TRS: ENST00000642316, ENST00000598205, ENST00000596571, ENST00000376970, ENST00000425460, ENST00000440075
Protein sequencees
Ensembl_PRO: ENSP00000407879, ENSP00000472543, ENSP00000366169, ENSP00000472819, ENSP00000493594, ENSP00000406273
RefSeq: XP_011525622.1, XP_024307489.1, XP_011525623.1, XP_006723449.1, XP_011525625.1, NP_079005.3, NP_001070654.1, NP_001139281.1
Others
UniRef100: UniRef100_B3KWH4, UniRef100_Q7Z406, UniRef100_A1L2Z2
UniRef90: UniRef90_A1L2Z2, UniRef90_B3KWH4, UniRef90_Q7Z406
UniRef50: UniRef50_B3KWH4, UniRef50_Q7Z406
UniGene: Hs.467142
CCDS: CCDS54295.1, CCDS59411.1, CCDS46151.1

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