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220296 HEPACAM

220296

HEPACAM

hepatic and glial cell adhesion molecule

protein-coding

Homo sapiens

基因描述

Type Description
Definition hepatic and glial cell adhesion molecule

研究结论

Date Results Publications
2020-06-27 11:53:00 The heterozygous variant of the HEPACAM gene probably underlies the megalencephalic leukoencephalopathy with subcortical cyst in this child 32335882
2020-03-21 12:13:00 Six patients were clinically diagnosed with MLC. Of the six patients, five (Pt1-Pt5) presented with a heterozygous mutation in GLIALCAM (c.274C>T(p.Arg92Trp) or c.275G>C(p.Arg92Pro)) and were diagnosed with MLC2B; the remaining patient (Pt6) with two compound heterozygous mutations in GLIALCAM (c.203A>T (p.Lys68Met) and c.395C>A (p.Thr132Asn)) was diagnosed with MLC2A. The mutation c.275C>G (p.Arg92Pro) has not been repor 31372844
2019-05-25 12:04:00 The results suggest that HepaCAM and its cytoplasmic domain suppress the nuclear translocation of AR via Ran in prostate cancer (PCa). The cytoplasmic domain of HepaCAM may serve as a novel target for therapy in PCa. 30664187
2018-10-06 10:04:00 On the whole, this study indicates that HepaCAM potentially represents a therapeutic target and PF3084014 may prove to a promising agent for use in the treatment of refractory prostate cancer. 29658567
2018-04-28 12:03:00 hepaCAM associates with connexin 43, a main component of gap junctions, and enhances connexin 43 localization to the plasma membrane at cellular junctions. 27819278

名称对应

Type IDs
Synonymous GlialCAM, HEPN1, MLC2A, MLC2B
Gene
UniProtKB-ID: HECAM_HUMAN
UniprotKB: Q14CZ8
UniParc: UPI0001596A0E, UPI000013E4B5
EMBL: BC104831, AK122595, AK098396, AL834419, AY047587, BC113562
Ensembl: ENSG00000165478
KO: hsa:220296
Nucleutide sequences
EMBL-CDS: AAQ93018.1, AAI13563.1, BAC85486.1, CAD39081.1, BAC05297.1, AAI04832.1
Ensembl_TRS: ENST00000298251
Protein sequencees
Ensembl_PRO: ENSP00000298251
RefSeq: XP_016872850.1, XP_005271506.1, NP_689935.2
Others
UniRef100: UniRef100_Q14CZ8
UniRef90: UniRef90_Q14CZ8
UniRef50: UniRef50_Q14CZ8
UniGene: Hs.745294
CCDS: CCDS8456.1

全选

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