Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: MSFAESGWRS ALRRRGPGTP GPVARPSYSS FTQGDSWGEG EVDEEEGCDQ VARDLRAEFS AGAWSEPRKR SVLPPDGNGS PVLPDKRNGI FP
Highest antigen sequence identity to the following orthologs: Mouse - 72%, Rat - 67%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 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; ARL-6-interacting protein 6; Phosphonoformate immuno-associated protein 1; regulated by phosphonoformate
Gene Aliases: AIP-6; AIP6; ARL6IP6; PFAAP1
UniProt ID: (Human) Q8N6S5
Entrez Gene ID: (Human) 151188
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