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Proteintech
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Immunogen sequence: MSFAESGWR SALRRRGPGT PGPVARPSYS SFTQGDSWGE GEVDEEEGCD QVARDLRAEF SAGAWSEPRK RSVLPPDGNG SPVLPDKRNG IFPAAAGSRA QPRRWPVQVL S (1-110 aa encoded by BC028741)
The ARL6IP6 gene has been identified as a novel candidate gene associated with a syndromic form of Cutis Marmorata Telangiectatica Congenita (CMTC), suggesting that ischemic stroke or transient ischemic attacks (TIA) might represent the mild end of the phenotypic spectrum, with autosomal recessive CMTC as the severe manifestation. The ARL6IP6 influences the susceptibility to these conditions, highlighting its importance in vascular and dermatological syndromes. Mutations in ARL6IP6 can lead to a range of phenotypic outcomes, from mild ischemic events to serious congenital skin disorders, emphasizing the need for deeper genetic and phenotypic exploration to understand its role in human pathology. Moreover, the gene is potentially involved in intracellular trafficking processes that are crucial for proper cellular function, which can be impacted by genetic variations, leading to clinical manifestations.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: ADP-ribosylation factor GTPase 6 interacting protein 6; ADP-ribosylation factor like GTPase 6 interacting protein 6; ADP-ribosylation factor-like 6 interacting protein 6; ADP-ribosylation factor-like protein 6-interacting protein 6; ADP-ribosylation-like factor 6 interacting protein 6; ADP-ribosylation-like factor 6-interacting protein 6; aip-6; ARL-6-interacting protein 6; Phosphonoformate immuno-associated protein 1; regulated by phosphonoformate
基因别名: 2310057C01Rik; 2610529A11Rik; AIP-6; AIP6; ARL6IP6; PFAAP1
UniProt ID: (Human) Q8N6S5, (Mouse) Q8BH07, (Rat) Q68FV2
Entrez Gene ID: (Human) 151188, (Mouse) 65103, (Rat) 499798